Adrenoleukodystrophy
An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).
Diffuse Cerebral Sclerosis of Schilder
A rare central nervous system demyelinating condition affecting children and young adults. Pathologic findings include a large, sharply defined, asymmetric focus of myelin destruction that may involve an entire lobe or cerebral hemisphere. The clinical course tends to be progressive and includes dementia, cortical blindness, cortical deafness, spastic hemiplegia, and pseudobulbar palsy. Concentric sclerosis of Balo is differentiated from diffuse cerebral sclerosis of Schilder by the pathologic finding of alternating bands of destruction and preservation of myelin in concentric rings. Alpers' Syndrome refers to a heterogeneous group of diseases that feature progressive cerebral deterioration and liver disease. (From Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73)
Peroxisomal Disorders
A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
Zellweger Syndrome
An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
ATP-Binding Cassette Transporters
Microbodies
Peroxisomes
Fatty Acids
X Chromosome
Sex Chromosome Aberrations
Addison Disease
An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES.
Brain Diseases, Metabolic
Refsum Disease
An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.
Chondrodysplasia Punctata
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
Lipid Metabolism, Inborn Errors
Fibroblasts
Color Vision Defects
Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue.
Genetic Linkage
Acyl-CoA Oxidase
Chemokine CCL22
Spinocerebellar Degenerations
Adrenal Insufficiency
Oxidation-Reduction
A chemical reaction in which an electron is transferred from one molecule to another. The electron-donating molecule is the reducing agent or reductant; the electron-accepting molecule is the oxidizing agent or oxidant. Reducing and oxidizing agents function as conjugate reductant-oxidant pairs or redox pairs (Lehninger, Principles of Biochemistry, 1982, p471).
Brain
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
Spinal Cord
Spinal Cord Injuries
PubMed
A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.
Publishing
Muscle Spasticity
A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
Neurobehavioral Manifestations
Hyperpigmentation
Bezafibrate
Gemfibrozil
Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy. (1/213)
Inherited defects in the peroxisomal ATP-binding cassette (ABC) transporter adrenoleukodystrophy protein (ALDP) lead to the lethal peroxisomal disorder X-linked adrenoleukodystrophy (X-ALD), for which no efficient treatment has been established so far. Three other peroxisomal ABC transporters currently are known: adrenoleukodystrophy-related protein (ALDRP), 70 kDa peroxisomal membrane protein (PMP70) and PMP70- related protein. By using transient and stable overexpression of human cDNAs encoding ALDP and its closest relative ALDRP, we could restore the impaired peroxisomal beta-oxidation in fibroblasts of X-ALD patients. The pathognomonic accumulation of very long chain fatty acids could also be prevented by overexpression of ALDRP in immortalized X-ALD cells. Immunofluorescence analysis demonstrated that the functional replacement of ALDP by ALDRP was not due to stabilization of the mutated ALDP itself. Moreover, we were able to restore the peroxisomal beta-oxidation defect in the liver of ALDP-deficient mice by stimulation of ALDRP and PMP70 gene expression through a dietary treatment with the peroxisome proliferator fenofibrate. These results suggest that a correction of the biochemical defect in X-ALD could be possible by drug-induced overexpression or ectopic expression of ALDRP. (+info)Retroviral-mediated adrenoleukodystrophy-related gene transfer corrects very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts: implications for therapy. (2/213)
X-linked adrenoleukodystrophy is a demyelinating disorder of the central nervous system with an impaired very long chain fatty acid metabolism. The adrenoleukodystrophy gene encodes a peroxisomal membrane protein that is part of a family of related ATP-binding transporters including the adrenoleukodystrophy-related protein. The adrenoleukodystrophy protein and adrenoleukodystrophy-related protein show 66% identity and have a mirror expression in most mouse tissues. We show that retroviral-mediated adrenoleukodystrophy-related gene transfer corrects very long chain fatty acid accumulation in adrenoleukodystrophy fibroblasts, irrespective of the presence or absence of adrenoleukodystrophy protein. Pharmacological approaches aiming at overexpressing the adrenoleukodystrophy-related gene in the central nervous system of adrenoleukodystrophy patients might thus offer new therapeutic leads. (+info)Beyond the disorder: one parent's reflection on genetic counselling. (3/213)
As a mother of two sons with adrenoleukodystrophy the author of this paper writes about her experiences of genetic counselling following the diagnosis. She discusses the dilemmas, emotions and aftermath this knowledge has brought to her family and the roles she played. Personal concerns are raised about the values guiding genetic counselling which, she found, focused on the technical details without considering the ethical implications arising from the new knowledge or the emotional dilemmas of prenatal testing. Some consequences of choice and the value of hope are discussed. She concludes by challenging genetic counsellors to deliver a service which not only provides technical information but is cognisant of the ethical considerations this information may foist upon a family. (+info)Preventing neurodegeneration in the Drosophila mutant bubblegum. (4/213)
The Drosophila melanogaster recessive mutant bubblegum (bgm) exhibits adult neurodegeneration, with marked dilation of photoreceptor axons. The bubblegum mutant shows elevated levels of very long chain fatty acids (VLCFAs), as seen in the human disease adrenoleukodystrophy (ALD). In ALD, the excess can be lowered by dietary treatment with "Lorenzo's oil," a mixture of unsaturated fatty acids. Feeding the fly mutant one of the components, glyceryl trioleate oil, blocked the accumulation of excess VLCFAs as well as development of the pathology. Mutant flies thus provide a potential model system for studying mechanisms of neurodegenerative disease and screening drugs for treatment. (+info)Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil". (5/213)
OBJECTIVES: X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal fatty acid oxidation, biochemically characterised by the accumulation of saturated very long chain fatty acids (VLCFAs), particularly hexacosanoic acid (C26:0). Dietary treatment with a 4:1 mixture of glyceroltrioleate and glyceroltrierucate ("Lorenzo's oil") normalises plasma VLCFA concentrations, but neither ameliorates nor arrests the rapid progression of neurological symptoms in the cerebral variants of X-ALD. The efficacy of "Lorenzo's oil" in the milder phenotypes of X-ALD was assessed, as this has been much less investigated. METHODS: Twenty two patients who were treated with "Lorenzo's oil" for at least 12 months for a median period of 2.5 (range 1.0-6.0) years were studied. Two had asymptomatic ALD, four the "Addison only" variant, 13 adrenomyeloneuropathy (AMN), and three were symptomatic female carriers. RESULTS: The plasma C26:0 concentration normalised or near normalised in 19 patients (86%), in the three others it decreased significantly. Nevertheless, disability as measured with the extended disability status scale score increased mildly (0.5 (95% confidence interval (95% CI) 0.25-1.0)) in the 16 patients with neurological symptoms. Furthermore, one "Addison only" patient and one patient with AMN developed cerebral demyelination, and another "Addison only" patient developed AMN. Adrenocortical insufficiency evolved in one patient with AMN, and hypogonadism in one patient with asymptomatic ALD and two patients with AMN. Nerve conduction, evoked potential studies (SEP, BAEP, VEP), and abnormalities on cerebral MRI did not improve. On the other hand, side effects were often noted-namely, mild increases in liver enzymes (55%), thrombocytopenia (55%), gastrointestinal complaints (14%), and gingivitis (14%). We also found a mild decrease in haemoglobin concentration and leucocyte count. CONCLUSIONS: The data suggest that treatment with "Lorenzo's oil" neither improved neurological or endocrine function nor arrested progression of the disease. Furthermore, the oil often induced adverse effects. Therefore, it is advocated that "Lorenzo's oil" should not be prescribed routinely to patients with X-ALD who already have neurological deficits. (+info)Immunological reconstitution and correlation of circulating serum inflammatory mediators/cytokines with the incidence of acute graft-versus-host disease during the first 100 days following unrelated umbilical cord blood transplantation. (6/213)
We investigated early immunological reconstitution and the production of circulating inflammatory mediators and their relationship to aGVHD in children during the first 100 days following unrelated UCBT. Nine patients had an underlying malignant disease (ALL, ANLL), and two, non-malignant diseases (SAA, ALD). The median age was 10 years (range: 1.25-21). Seven of 11 patients were alive by day 100, two died from regimen-related toxicity, and two died from severe aGVHD (grade >/=III). Myeloid engraftment (ANC >/=500/mm3 x 2 days) occurred at a median of 24 days (range: 14-55), while platelet engraftment (platelet count >/=20 000/mm3 untransfused x 7 days) was delayed and occurred at a median of 52 days (range: 33-95). The mean cell dose of CD34+ cells was 3.3 +/- 3.51 x 10(5)/kg, and of CD34+/CD41+ cells was 3.94 +/- 3.99 x 10(4)/kg. Acute GVHD (grade II-IV) developed in seven patients (77%), and severe aGVHD (grade III-IV) developed in five patients (55%). Serum levels of IL-2Ralpha, IL-2, IL-4, IL-7, IL-12, and IFNgamma were not significantly different between patients with grades 0-I aGVHD and patients with grades II-IV aGVHD. Evaluation of immunological reconstitution on day 90 post UCBT demonstrated an early recovery of the absolute numbers of B cells (CD19+) and NK cells (CD3-/CD56+). Immunoglobulin levels for IgG, IgM and IgA remained normal throughout the study period. PMN functional studies demonstrated normal superoxide generation, bacterial killing (BK), and chemotaxis (CTX). However, both helper (CD3+/CD4+) and suppressor (CD3+/CD8+) T cell subsets remained low during the first 100 days post UCBT with mean +/- s.e.m. values of 120 +/- 29/mm3 and 10 +/- 50/mm3, respectively (normal = 900-2860/mm3 (CD3/CD4), normal = 630-1910/mm3 (CD3/CD8)). Mitogen response studies showed low blastogenesis to PHA and PWM, with a mean c.p.m. +/- s.e.m. value of 1.7 +/- 0.67 x 10(4) for PHA (NL >/= 75 x 10(3)) and 8.42 +/- 4.1 x 10(3) for PWM (NL >/=25 x 10(3)). In conclusion, serum levels of inflammatory mediators were not predictive nor did they correlate with the severity of aGVHD. Recovery of NK cells, B cells, and PMN functions occurred within the first 90 days post transplant. However, T cell subsets, CD3+/CD4+ and CD3+/CD8+, and T cell functional activity remained significantly decreased and may account for the high incidence of infectious morbidity seen during this immediate post UCBT period. (+info)Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. (7/213)
Mammalian peroxisomal proteins adrenoleukodystrophy protein (ALDP), adrenoleukodystrophy-related protein (ALDRP), and 70-kDa peroxisomal protein (PMP70) belong to the superfamily of ATP-binding cassette (ABC) transporters. Unlike many ABC transporters that are single functional proteins with two related halves, ALDP, ALDRP, and PMP70 have the structure of ABC half-transporters. The dysfunction of ALDP is responsible for X-linked adrenoleukodystrophy (X-ALD), a neurodegenerative disorder in which saturated very long-chain fatty acids accumulate because of their impaired peroxisomal beta-oxidation. No disease has so far been associated with mutations of adrenoleukodystrophy-related or PMP70 genes. It has been proposed that peroxisomal ABC transporters need to dimerize to exert import functions. Using the yeast two-hybrid system, we show that homo- as well as heterodimerization occur between the carboxyl-terminal halves of ALDP, ALDRP, and PMP70. Two X-ALD disease mutations located in the carboxyl-terminal half of ALDP affect both homo- and heterodimerization of ALDP. Co-immunoprecipitation demonstrated the homodimerization of ALDP, the heterodimerization of ALDP with PMP70 or ALDRP, and the heterodimerization of ALDRP with PMP70. These results provide the first evidence of both homo- and heterodimerization of mammalian ABC half-transporters and suggest that the loss of ALDP dimerization plays a role in X-ALD pathogenesis. (+info)X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression. (8/213)
BACKGROUND AND PURPOSE: Early assignment of disease progression among patients with X-linked adrenoleukodystrophy (ALD) is critical for the appropriate selection of effective therapy. We evaluated the association between contrast enhancement on T1-weighted spin-echo MR images and disease progression. METHODS: Clinical charts of patients with X-linked ALD were reviewed for age, availability of MR images of the brain, severity of neurologic impairment, and duration and number of follow-up evaluations. Forty-three male patients with X-linked ALD had undergone multiple MR imaging examinations of the brain that consisted of at least sagittal and axial T1-weighted spin-echo, axial double-echo spin-echo, and contrast-enhanced axial T1-weighted spin-echo imaging. The MR images were reviewed for the presence of contrast enhancement. In addition, global disease burden, as shown by the double-echo spin-echo images, was assessed using a visual scoring method (Loes score). RESULTS: Enhancement was seen on the initial T1-weighted spin-echo MR images of 21 (49%) patients; 18 (86%) of the 21 patients had disease progression revealed by the follow-up evaluations based on MR imaging (Loes) and neurologic scores. No enhancement was seen on the initial T1-weighted spin-echo MR images of 22 (51%) patients; for 18 (82%) of the 22 patients, no evidence of disease progression was revealed by the follow-up evaluations. CONCLUSION: There is a very strong association between the presence of contrast enhancement on T1-weighted MR images and X-linked ALD progression based on clinical evaluation and MR imaging. (+info)
Adrenoleukodystrophy (ALD) Clinical and Non-Clinical Studies, Key Companies, Therapeutic Assessment, Emerging Therapies,...
Adrenoleukodystrophy (ALD) Clinical and Non-Clinical Studies, Key Companies, Therapeutic Assessment, Emerging Therapies,...
Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell...
Plasma very long-chain fatty acid assay legal definition of plasma very long-chain fatty acid assay
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Adrenoleukodystrophy (ALD) Sample Report covering Adrenoleukodystrophy (ALD) epidemiology from 2017 to 2030.
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adrenoleukodystrophy
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Adrenoleukodystrophy
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Positive Preclinical Data With MD1003 (High Dose Pharmaceutical Grade Biotin) in X-Linked Adrenoleukodystrophy to be Presented...
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Functional Characterization of Two Elongases of Very Long-Chain Fatty Acid from Tenebrio molitor L. (Coleoptera: Tenebrionidae)...
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Adrenal insufficiency
X-Linked Recessive Adrenoleukodystrophy can also cause adrenal insufficiency. Adrenal insufficiency can also result when a ... Adrenal destruction is also a feature of adrenoleukodystrophy (ALD), and when the adrenal glands are involved in metastasis ( ... Thomas A Wilson, MD (1999). "Adrenoleukodystrophy". Cite journal requires ,journal= (help) Ten S, New M, Maclaren N (2001). " ...
List of OMIM disorder codes
TBS19 Adrenoleukodystrophy; 300100; ABCD1 Adrenoleukodystrophy, neonatal; 202370; PEX1 Adrenoleukodystrophy, neonatal; 202370; ... PEX10 Adrenoleukodystrophy, neonatal; 202370; PEX13 Adrenoleukodystrophy, neonatal; 202370; PEX26 Adrenoleukodystrophy, ...
Protein targeting
Adrenoleukodystrophy (ALD). Refsum disease Parkinson's disease Hypercholesterolemia, atherosclerosis, obesity, and diabetes As ...
Andrea Prader
1961) Adrenoleukodystrophy, (ALD). In 1963, Andrea Prader participated in a research effort of a collective of scientists ...
Long-chain-fatty-acid-CoA ligase
Adrenoleukodystrophy (ALD), is the build up of long chain fatty acids in the brain and adrenal cortex, because of the decreased ... Kemp S, Watkins P (2009-03-03). "very long-chain fatty acids and X-ALD". X-linked Adrenoleukodystrophy Database. Archived from ... "Adrenoleukodystrophy Information Page". National Institute of Neurological Disorders and Stroke (NINDS). 2009-03-18. Archived ...
X-linked recessive inheritance
Adrenoleukodystrophy; leads to progressive brain damage, failure of the adrenal glands and eventually death. ...
Ben's Friends
"Adrenoleukodystrophy (ALD) Online Support Group". Adrenoleukodystrophysupport.org. Retrieved 2014-02-26. CS1 maint: discouraged ... A few of the larger Ben's Friends Communities: AVM Trigeminal Neuralgia Ataxia International Adrenoleukodystrophy (ALD) ...
Leukodystrophy
In X-linked adrenoleukodystrophy (X-ALD), a mutation occurs in the peroxisomal ATP-binding cassette (ABC transporter). This ... The one exception to this is any type of leukodystrophy carried on a sex chromosome, such as X-linked adrenoleukodystrophy, ... Another type of inherited leukodystrophy is X-linked adrenoleukodystrophy (X-ALD). As its name implies, this type of ... Classic symptomatic progression of juvenile X-linked adrenoleukodystrophy is shown in the 1992 film, Lorenzo's Oil. Course and ...
CYP4F2
Implications for X-linked adrenoleukodystrophy". The Journal of Biological Chemistry. 281 (19): 13180-7. doi:10.1074/jbc. ...
ABCD1
Berger J, Molzer B, Faé I, Bernheimer H (1995). "X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 ... Feil R, Aubourg P, Mosser J, Douar AM, Le Paslier D, Philippe C, Mandel JL (1992). "Adrenoleukodystrophy: a complex chromosomal ... Kobayashi T, Yamada T, Yasutake T, Shinnoh N, Goto I, Iwaki T (1994). "Adrenoleukodystrophy gene encodes an 80 kDa membrane ... GeneReviews/NIH/NCBI/UW entry on X-Linked Adrenoleukodystrophy ABCD1+protein,+human at the US National Library of Medicine ...
Genetic disorder
X-linked dominant disorders are caused by mutations in genes on the X chromosome. Only a few disorders have this inheritance pattern, with a prime example being X-linked hypophosphatemic rickets. Males and females are both affected in these disorders, with males typically being more severely affected than females. Some X-linked dominant conditions, such as Rett syndrome, incontinentia pigmenti type 2, and Aicardi syndrome, are usually fatal in males either in utero or shortly after birth, and are therefore predominantly seen in females. Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (47,XXY) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity. The chance of passing on an X-linked dominant disorder differs between men and women. The sons of a man with an X-linked dominant disorder will all be unaffected (since they receive their father's Y chromosome), and his daughters will ...
Newborn screening
Adrenoleukodystrophy (ALD), a peroxisomal disease that has a variable clinical presentation is one of the disorders that has ... Raymond, G. V.; Jones, R. O.; Moser, A. B. (2007). "Newborn screening for adrenoleukodystrophy: Implications for therapy". ...
ACSBG1
2005). "Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy". Hum. Mol. ... Dec 2000). "Novel acyl-CoA synthetase in adrenoleukodystrophy target tissues". Biochem Biophys Res Commun. 279 (1): 62-8. doi: ... 2001). "Novel acyl-CoA synthetase in adrenoleukodystrophy target tissues". Biochem. Biophys. Res. Commun. 279 (1): 62-8. doi: ...
Obligate carrier
"Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female". Case Reports in Neurological Medicine. 2013: 491790. ...
X-inactivation
... such as with X-linked adrenoleukodystrophy. The differentiation of phenotype in heterozygous females is furthered by the ... "Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes". Metabolic Brain Disease. 30 (5): 1279-84. doi: ...
Lorenzo's oil
Poulos A, Gibson R, Sharp P, Beckman K, Grattan-Smith P (1994). "Very long chain fatty acids in X-linked adrenoleukodystrophy ... although the long-term use of Lorenzo's oil (oleic acid and erucic acid) in the treatment of adrenoleukodystrophy or ... It is used in the investigational treatment of asymptomatic patients with adrenoleukodystrophy (ALD). The oil was formulated by ... U.S. Patent 5,331,009: Pharmaceutical compositions for treating adrenoleukodystrophy. Issued July 19, 1994. "Lorenzo's Oil boy ...
Sebastian Santa Maria
Santa Maria died of adrenoleukodystrophy in 1996 in Lausanne. Official webpage Discography (in French) Latino v t e. ...
Hugo Moser (scientist)
Beyond establishing the diagnostic testing for X-linked adrenoleukodystrophy, Moser also contributed to the discovery of the ... Moser, Hugo W. (2005). "Follow-up of 89 Asymptomatic Patients With Adrenoleukodystrophy Treated With Lorenzo's Oil". JAMA ... who had helped Kuni Suzuki make the discovery of elevated very long chain fatty acids in Adrenoleukodystrophy brains at Albert ... This principle later influenced his work on adrenoleukodystrophy (ALD). After two years of residency at the Peter Bent Brigham ...
Adrenocorticotropic hormone
Adrenoleukodystrophy, can be accompanied by adrenal insufficiency. *West syndrome ("infantile spasms"), a disease where ACTH is ...
X chromosome
Such discoveries helped to explain x-linked disorders in humans, e.g., haemophilia A and B, adrenoleukodystrophy, and red-green ... Within 2 years after diagnosis, most boys with Adrenoleukodystrophy die. The X-chromosome has played a crucial role in the ... Megalocornea 1 is associated with Xq21.3-q22[medical citation needed] Adrenoleukodystrophy, a rare and fatal disorder that is ...
Anton-Babinski syndrome
"Anton-Babinski syndrome in a child with early-stage adrenoleukodystrophy". European Journal of Neurology. 14 (2): e11-e12. doi: ... article in 2007 that examines a case study of a six-year-old child with Anton syndrome and early stages of adrenoleukodystrophy ...
Peroxisome
Two common examples are X-linked adrenoleukodystrophy and peroxisome biogenesis disorders. PEX genes encode the protein ...
Very long chain fatty acid
Certain peroxisomal disorders, such as adrenoleukodystrophy and Zellweger syndrome, can be associated with an accumulation of ... "Adrenoleukodystrophy: Increased plasma content of saturated very long chain fatty acids". Neurology. 31 (10): 1241-9. doi: ... the fatty acid associated with adrenoleukodystrophy Jakobsson, Andreas; Westerberg, Rolf; Jacobsson, Anders "Fatty acid ...
Jean-Louis Mandel
Putative x-linked adrenoleukodystrophy gene shares unexpected homology with abc transporters. Nature, 361, 726-730 (1993). ** ... a therapeutic target for X-adrenoleukodystrophy. Hum. Mol. Genet. 13, 2997-3006 (2004). Mandel, J.-L. & Chelly, J. Monogenic X- ... Jean-Louis Mandel has also identified the genes responsible for adrenoleukodystrophy, with Patrick Aubourg (Mosser et al, ...
X-inactivation
"Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes". Metabolic Brain Disease. 30 (5): 1279-84. doi: ...
Infantile Refsum disease
... and neonatal adrenoleukodystrophy (NALD). Although they share a similar molecular basis for disease, Infantile Refsum disease ...
List of people from Central Italy
Augusto Odone, (1933-2013) inventor of Lorenzo's oil, a treatment for Adrenoleukodystrophy. List of southern Italians Born in ...
Lorenzo's Oil
For the triglyceride mixture used in treatment of adrenoleukodystrophy, see Lorenzo's oil. For discussion of several therapies ... two parents in a relentless search for a cure for their son Lorenzo's adrenoleukodystrophy (ALD). The film was nominated for ... The boy is diagnosed as having adrenoleukodystrophy (ALD), which is fatal within two years. Failing to find a doctor capable of ... therapy for X-linked adrenoleukodystrophy: Rationale and current assessment of efficacy". Journal of Molecular Neuroscience. 33 ...
ABCD3
Kobayashi T, Shinnoh N, Kondo A, Yamada T (1997). "Adrenoleukodystrophy protein-deficient mice represent abnormality of very ... and adrenoleukodystrophy protein (ABCD1)". J. Biol. Chem. 277 (42): 40142-7. doi:10.1074/jbc.M205079200. PMID 12176987. Rual JF ... "Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein ... "Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein ...
Adrenoleukodystrophy: MedlinePlus Medical Encyclopedia
Adrenoleukodystrophy describes several closely related disorders that disrupt the breakdown of certain fats. These disorders ... Your child develops symptoms of X-linked adrenoleukodystrophy. *Your child has X-linked adrenoleukodystrophy and is getting ... Adrenoleukodystrophy is usually passed down from parent to child as an X-linked genetic trait. It affects mostly males. Some ... Adrenoleukodystrophy describes several closely related disorders that disrupt the breakdown of certain fats. These disorders ...
X-linked adrenoleukodystrophy: MedlinePlus Genetics
X-linked adrenoleukodystrophy is a genetic disorder that mainly affects the nervous system and the adrenal glands, which are ... X-linked adrenoleukodystrophy is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that ... X-linked adrenoleukodystrophy is a genetic disorder that mainly affects the nervous system and the adrenal glands, which are ... Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy. The ABCD1 gene provides instructions for producing the ...
adrenoleukodystrophy
... Axel Wrede axel at nata.gun.de Sun Mar 27 02:46:00 EST 1994 *Previous message: adrenoleukodystrophy ... adrenoleukodystrophy: , I am interested in finding any information about this disease that was , the subject of the movie ... Lorenzos Oil. Adrenoleukodystrophy or ALD is an inborn error of the fat metabolism, which causes the accumulation of very ...
Adrenoleukodystrophy - Wikipedia
"X-Linked Adrenoleukodystrophy". PMID 20301491. Cite journal requires ,journal= (help) "#300100 - Adrenoleukodystrophy". Johns ... males adrenoleukodystrophy at NINDS Adrenoleukodystrophy at National Center for Biotechnology Information. ... Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by a defect in ... X-Linked Adrenoleukodystrophy". In Scriver, C.W.; Beaudet, A.L.; Sly, W.S.; Valle, D.; Childs, B.; Kinzler, K.W.; Vogelstein, B ...
Che cosa è Adrenoleukodystrophy?
Adrenoleukodystrophy (ALD) è malattia genetica X-collegata rara che pregiudica le ghiandole surrenali (trovate sopra i reni) ... adrenoleukodystrophy X-collegato: MRI in un uomo di 32 anni che presenta le difficoltà psichiatriche ed atassia cerebellare due ... Adrenoleukodystrophy (ALD) è malattia genetica X-collegata rara che pregiudica le ghiandole surrenali (trovate sopra i reni) ... Infanzia Adrenoleukodystrophy cerebrale - la maggior parte del modulo comune di ALD. *Adrenomyeloneuropathy (AMN) - modulo ...
Adrenoleukodystrophy definition | Drugs.com
Definition of adrenoleukodystrophy. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and ... adrenoleukodystrophy. Pronunciation: ă-drē′nō-lū-kō-dis′trŏ-fē. Definition: An X-linked recessive disorder affecting male ... The causative gene maps to Xq and encodes adrenoleukodystrophy protein (ALDP), an ATP-binding transporter located in the ...
Neonatal adrenoleukodystrophy - Wikipedia
Neonatal adrenoleukodystrophy is an inborn error of peroxisome biogenesis. It is part of the Zellweger spectrum. It has been ... "Orphanet: Neonatal adrenoleukodystrophy". www.orpha.net. Retrieved 17 March 2019. CS1 maint: discouraged parameter (link) "# ... 202370 Adrenoleukodystrophy, Autosomal Neonatal Form". Johns Hopkins University. Retrieved 2012-06-24. CS1 maint: discouraged ...
Adrenoleukodystrophy-cerebello-brainstem dominant case | SpringerLink
The patient was a 28-year-old man with no family history of adrenoleukodystrophy. His neurologic symptoms were cerebellar... ... A case of adrenoleukodystrophy was studied morphologically and biochemically. ... A case of adrenoleukodystrophy was studied morphologically and biochemically. The patient was a 28-year-old man with no family ... Adrenoleukodystrophy Cerebello-brainstem involvement Electron microscopy Biochemistry This is a preview of subscription content ...
Search of: Adrenoleukodystrophy - List Results - ClinicalTrials.gov
MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD). *Cerebral Adrenoleukodystrophy. *Biological: Mesenchymal ... Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD). *X-Linked Adrenoleukodystrophy ... A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy. *X-linked Adrenoleukodystrophy ... Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy. *X-linked Adrenoleukodystrophy ...
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. - PubMed - NCBI
In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. Cerebral adrenoleukodystrophy ... Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.. Eichler F1, Duncan C1, Musolino PL1, Orchard PJ1, De ... Gene Therapy for Cerebral Adrenoleukodystrophy. [N Engl J Med. 2018]. *FDA advisers back gene therapy for rare form of ... We enrolled boys with cerebral adrenoleukodystrophy in a single-group, open-label, phase 2-3 safety and efficacy study. ...
Mutational analysis of patients with X-linked adrenoleukodystrophy. - PubMed - NCBI
Adrenoleukodystrophy - Facts and Information | Disabled World
Adrenoleukodystrophy (ALD) or Schilder-Addision Disease involves closely-related inherited disorders that disrupt breakdown of ... Defining Adrenoleukodystrophy (ALD). Adrenoleukodystrophy (ALD) was first described in the early 1900s and referred to as, ... Treating Adrenoleukodystrophy. There is no specific form of treatment for X-linked adrenoleukodystrophy (ALD), although eating ... Reference Title: "Adrenoleukodystrophy - Facts and Information", Source: Adrenoleukodystrophy - Facts and Information. Abstract ...
Newborn Screening for Adrenoleukodystrophy - Full Text View - ClinicalTrials.gov
Newborn Screening for Adrenoleukodystrophy. The safety and scientific validity of this study is the responsibility of the study ... Adrenoleukodystrophy. Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System ... Genetics Home Reference related topics: RNAse T2-deficient leukoencephalopathy X-linked adrenoleukodystrophy ... Genetic and Rare Diseases Information Center resources: Adrenomyeloneuropathy X-linked Adrenoleukodystrophy Peroxisomal ...
PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene | PNAS
PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene. N Shani, P A Watkins, and D Valle ... The adrenoleukodystrophy protein (ALDp) is an ATP-binding cassette (ABC) transporter in the human peroxisome membrane. It is ... PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene Message Subject (Your Name) has sent ... defective in X chromosome-linked adrenoleukodystrophy (ALD), a neurodegenerative disorder with impaired peroxisomal oxidation ...
Orphanet: Neonatal adrenoleukodystrophy
Adrenoleukodystrophy (ALD) - Lorenzo's Oil | Science 2.0
Adrenoleukodystrophy/ adrenomyeloneuropathy - Association ELA
Adrenoleukodystrophy/ adrenomyeloneuropathy. Adrenoleukodystrophy/ adrenomyeloneuropathy. X-linked adrenoleukodystrophy is the ... Adrenoleukodystrophy/ adrenomyeloneuropathyX-linked adrenoleukodystrophy is the most common type of leukodystrophy, affecting ... Adrenoleukodystrophy/ adrenomyeloneuropathyX-linked adrenoleukodystrophy is the most common type of leukodystrophy, affecting ... Adrenoleukodystrophy/ adrenomyeloneuropathyX-linked adrenoleukodystrophy is the most common type of leukodystrophy, affecting ...
Adrenoleukodystrophy: new approaches to a neurodegenerative disease
X-linked adrenoleukodystrophy (X-ALD), which was first described in 1923, was viewed until 1976 as a rare and inexorably fatal ... Adrenoleukodystrophy: new approaches to a neurodegenerative disease JAMA. 2005 Dec 28;294(24):3131-4. doi: 10.1001/jama.294.24. ... X-linked adrenoleukodystrophy (X-ALD), which was first described in 1923, was viewed until 1976 as a rare and inexorably fatal ...
Adrenoleukodystrophy | definition of adrenoleukodystrophy by Medical dictionary
What is adrenoleukodystrophy? Meaning of adrenoleukodystrophy medical term. What does adrenoleukodystrophy mean? ... Looking for online definition of adrenoleukodystrophy in the Medical Dictionary? adrenoleukodystrophy explanation free. ... Related to adrenoleukodystrophy: Lorenzos Oil. Adrenoleukodystrophy. Definition. Adrenoleukodystrophy is a rare genetic ... adrenoleukodystrophy. (ə-drē′nō-lo͞o′kō-dĭs′trə-fē). n.. An X-linked form of leukodystrophy occurring chiefly in boys, ...
Adrenoleukodystrophy - Pipeline Review, H1 2017
Adrenoleukodystrophy (Adrenomyeloneuropathy/ Schilder-Addison Complex) - Pipeline by bluebird bio Inc, H1. Adrenoleukodystrophy ... Adrenoleukodystrophy (Adrenomyeloneuropathy/ Schilder-Addison Complex) - Pipeline by Pfizer Inc, H1. Adrenoleukodystrophy ( ... Adrenoleukodystrophy (Adrenomyeloneuropathy/ Schilder-Addison Complex) - Dormant Projects. Adrenoleukodystrophy ( ... Adrenoleukodystrophy (Adrenomyeloneuropathy/ Schilder-Addison Complex) - Overview. Adrenoleukodystrophy (Adrenomyeloneuropathy ...
MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy
... Neurology. 2019 Apr 9;92(15):e1698-e1708. doi: ... Objective: To describe the brain MRI findings in asymptomatic patients with childhood cerebral adrenoleukodystrophy (CCALD). ... Methods: We retrospectively reviewed a series of biochemically or genetically confirmed cases of adrenoleukodystrophy followed ...
ALDs (Adrenoleukodystrophy) - Medical Dictionary online-medical-dictionary.org
Disruption of mitochondrial function in adrenoleukodystrophy
Illness: X-linked adrenoleukodystrophy (ALD). Experimental model: Patients skin cells; sick mice carrying a mutated ABCD1 gene ... New gene therapy trial for adrenoleukodystrophy. In 2009 the results of the gene therapy trial for childhood cerebral ... Disruption of mitochondrial function in adrenoleukodystrophyALD is an inherited neurodegenerative disease characterized by ... Disruption of mitochondrial function in adrenoleukodystrophyALD is an inherited neurodegenerative disease characterized by ...
Adrenoleukodystrophy (Adrenomyeloneuropathy/ Schilder-Addison Complex) - Pipeline Review, H1 2020
... Summary This latest ... provides an overview of the Adrenoleukodystrophy (Genetic Disorders) pipeline landscape.. "Adrenoleukodystrophy is a disorder ... Adrenoleukodystrophy (Genetic Disorders) pipeline guide helps in identifying and tracking emerging players in the market and ... The Adrenoleukodystrophy (Genetic Disorders) pipeline guide also reviews of key players involved in therapeutic development for ...
Biochemical and cell biological aspects of X-linked adrenoleukodystrophy
Three Cases of Adrenoleukodystrophy
Adrenoleukodystrophy Biopsy Brain Child Humans Male Metabolism Paresis Peripheral Nerves Plasma Seizures Sural Nerve ... Authors experienced three cases of adrenoleukodystrophy in a 7 year old boy, a 17 and a 210 year old males that were diagnosed ... Adrenoleukodystrophy is an inborn error of metabolism characterized by adrenal insufficiency and progressive demyelmation of ...
Adrenoleukodystrophy
Adrenoleukodystrophy
... is an X-linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome ... Adrenoleukodystrophy is a rare, genetic disorder characterized by the breakdown or loss of myelin, the fatty covering ... allowing doctors to detect abnormalities in your brain that could indicate adrenoleukodystrophy, including damage to the nerve ...
What is the treatment for Adrenoleukodystrophy (ALD)? | Genetic Disorders - Sharecare
Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision.
A patient from a large kindred with adrenoleukodystrophy showed profound disturbance of color ordering, color matching, ... Adrenoleukodystrophy / genetics*, physiopathology*. Color Perception / physiology*. Gene Rearrangement. Humans. Male. Sex ... Previous Document: Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis.. Next Document: ... A patient from a large kindred with adrenoleukodystrophy showed profound disturbance of color ordering, color matching, ...
CerebralAdrenomyeloneuropathyNeonatal adrenoleukodystrophyNALDALDPLorenzo's OilABCD1ProteinDisorderChildhoodClinical2017MutationsAdrenal glandsRecessiveDiseaseDiagnosisLeukodystrophiesSymptoms of X-linked adrenoleukodyCase of adrenoleukodystrophyCases of adrenoleukodystrophyChildren with adrenoleukodystrophyPrevention of AdrenoleukodystrophyDisordersNeurologicFindingsPhenotypePhenotypesPatientsInborn errorTreatmentAsymptomatic
Cerebral21
- There are four distinct types of X-linked adrenoleukodystrophy: a childhood cerebral form, an adrenomyeloneuropathy type, an adrenal insufficiency only form, and a type called asymptomatic. (medlineplus.gov)
- The childhood cerebral form of X-linked adrenoleukodystrophy typically occurs in boys because girls are rarely affected with this type. (medlineplus.gov)
- Without treatment, individuals with the cerebral form of X-linked adrenoleukodystrophy usually survive only a few years after symptoms begin. (medlineplus.gov)
- Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. (nih.gov)
- Cerebral adrenoleukodystrophy is characterized by demyelination and neurodegeneration. (nih.gov)
- We enrolled boys with cerebral adrenoleukodystrophy in a single-group, open-label, phase 2-3 safety and efficacy study. (nih.gov)
- Early results of this study suggest that Lenti-D gene therapy may be a safe and effective alternative to allogeneic stem-cell transplantation in boys with early-stage cerebral adrenoleukodystrophy. (nih.gov)
- To describe the brain MRI findings in asymptomatic patients with childhood cerebral adrenoleukodystrophy (CCALD). (nih.gov)
- This study is to evaluate the safety, pharmacokinetics, and efficacy of NV1205 in pediatric patients diagnosed with childhood cerebral adrenoleukodystrophy (CCALD). (clinicaltrials.gov)
- In addition, 73.7 % (14/19) patients were type of childhood cerebral adrenoleukodystrophy, 26.3 %(5/19) were in Addison only. (sigmaaldrich.com)
- Half of the childhood cerebral adrenoleukodystrophy patients had the adrenocortical insufficiency preceded the onset of neurological symptoms. (sigmaaldrich.com)
- Our data showed that hematopoietic stem cell transplantation performed at an advanced stage of the cerebral X- linked adrenoleukodystrophy would accelerate the progression of the disease. (sigmaaldrich.com)
- Data from nearly seven years of follow up suggests one-time treatment with eli-cel may durably stabilise cerebral adrenoleukodystrophy disease progression. (europeanpharmaceuticalreview.com)
- bluebird bio Inc. has released new data from the clinical development programme for its investigational elivaldogene autotemcel (eli-cel, Lenti-D™) gene therapy in patients with cerebral adrenoleukodystrophy (CALD). (europeanpharmaceuticalreview.com)
- Cerebral adrenoleukodystrophy (CALD) is a rapidly progressing, often fatal neurodegenerative disease caused by mutations in the ABCD1 gene, resulting in deficiency of ALD protein. (elsevier.com)
- Objective: Hematopoietic stem cell transplantation (HSCT) is the only treatment known to slow or halt inflammatory demyelination among boys with the cerebral form of X-linked adrenoleukodystrophy (cALD), a devastating childhood condition affecting the central nervous system. (elsevier.com)
- The most common of these, childhood cerebral ALD (CCALD), affects about 37 percent of individuals with adrenoleukodystrophy (7). (webclearinghouse.net)
- His research focuses on adrenoleukodystrophy and in 2014 he received a Veni grant from NWO (Netherlands Organization for Scientific Research) to study the natural history of adrenoleukodystrophy and identify predictive biomarkers for the onset of cerebral adrenoleukodystrophy. (adrenoleukodystrophy.info)
- bluebird bio has two later stage clinical products in development for childhood cerebral adrenoleukodystrophy (CCALD) and beta-thalassemia/sickle cell anemia. (bluebirdbio.com)
- When adrenoleukodystrophy (ALD) occurs in children, it is called childhood cerebral ALD or CALD, and it leads to serious neurological disorders. (aldconnect.org)
- Cerebral Adrenoleukodystrophy (CALD) is a severe and potentially fatal form of a rare genetic disorder called Adrenoleukodystrophy (also known as Lorenzo's Oil disease). (biosky.co)
Adrenomyeloneuropathy6
- Adrenoleukodystrophy/ adrenomyeloneuropathy X-linked adrenoleukodystrophy is the most common type of leukodystrophy, affecting close to 30% of cases registered by the European Leukodystrophies Association (ELA).Adrenomyeloneuropathy (or AMN) is the adult form of this condition. (ela-asso.com)
- Abetalipoproteinemia is also a kind of Adrenoleukodystrophy (Adrenomyeloneuropathy/ Schilder-Addison Complex) Bassen-Kornzweig syndrome is a rare disease passed down through families in which a person is unable to fully absorb dietary fats through the intestines. (researchandmarkets.com)
- The Adrenoleukodystrophy (Genetic Disorders) pipeline guide also reviews of key players involved in therapeutic development for Adrenoleukodystrophy (Adrenomyeloneuropathy/ Schilder-Addison Complex) and features dormant and discontinued projects. (researchandmarkets.com)
- Moreover, we show increased expression levels of cyclophilin D in the affected zones of brains in patients with adrenomyeloneuropathy, in spinal cord of a mouse model of X-linked adrenoleukodystrophy (Abcd1-null mice) and in fibroblasts from patients with X-linked adrenoleukodystrophy. (sigmaaldrich.com)
- Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) are important potential underlying diseases to consider in boys and men with primary idiopathic (unexplained) adrenal failure/Addison's Disease where adrenal antibodies cannot be detected and there is no other obvious cause of adrenal failure. (aldlife.org)
- Food for special medical purposes indicated for dietary treatment of patients with Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN) How to use: follow medical prescription using the handy dispenser on the bottle cap. (pharmaelle.com)
Neonatal adrenoleukodystrophy9
- Neonatal adrenoleukodystrophy is an inborn error of peroxisome biogenesis. (wikipedia.org)
- Neonatal adrenoleukodystrophy (NALD) is a disorder that is totally distinct from X-linked adrenoleukodystrophy. (kennedykrieger.org)
- Mutations in either the PEX1 or PEX6 gene are the most common cause of the lethal neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease and account for disease in 80% of all such patients. (pnas.org)
- Neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease represent progressively less severe forms of what is essentially the same disease. (pnas.org)
- Background Neonatal adrenoleukodystrophy (n-ALD) and X-linked ALD (X-ALD) patients present with demyelination, poor growth and progressive mental retardation. (bioportfolio.com)
- Later also (more fully 'neonatal adrenoleukodystrophy'): a similar disorder inherited in an autosomal recessive manner and appearing in infancy. (oxforddictionaries.com)
- Serum pipecolic acid was measured in patients with neonatal adrenoleukodystrophy (NALD), sex linked ALD, and the cerebrohepatorenal syndrome of Zellweger. (elsevier.com)
- Moser, H. W. / Hyperpipecolic acidemia in neonatal adrenoleukodystrophy . (elsevier.com)
- Although they share a similar name, X-linked ALD and neonatal adrenoleukodystrophy (NALD), a peroxisome biogenesis disorder, are completely different diseases. (findmeacure.com)
NALD2
- X-linked adrenoleukodystrophy (see this term) should not be confused with NALD. (orpha.net)
- NALD and X-linked adrenoleukodystrophy never occur in the same family. (kennedykrieger.org)
ALDP7
- The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP), which is involved in transporting certain fat molecules called very long-chain fatty acids (VLCFAs) into peroxisomes. (medlineplus.gov)
- Normalmente, ABCD1 codifica la proteina adrenoleukodystrophy della proteina (ALDP) che è comprende nel trasporto degli acidi grassi molto a lunga catena (VLCFA) nelle celle da degradare dai peroxisomes o dai lisosomi. (news-medical.net)
- The causative gene maps to Xq and encodes adrenoleukodystrophy protein (ALDP), an ATP-binding transporter located in the peroxisomal membrane. (drugs.com)
- The adrenoleukodystrophy protein (ALDp) is an ATP-binding cassette (ABC) transporter in the human peroxisome membrane. (pnas.org)
- X-linked adrenoleukodystrophy (X-ALD) is a rare X-linked metabolic disorder caused by variants in the ABCD1 gene that cause a deficiency in adrenoleukodystrophy protein (ALDP) and subsequent accumulation of very long-chain fatty acids (VLCFAs). (arupconsult.com)
- Adrenoleukodystrophy (ALD) is a genetic neurodegenerative condition caused by a mutation in the ABCD1 gene, which contains the information necessary to make the adrenoleukodystrophy protein (ALDP). (adrenoleukodystrophynews.com)
- This picture shows a hypothetical model of adrenoleukodystrophy protein (ALDP). (adrenoleukodystrophy.info)
Lorenzo's Oil1
- Lorenzo oil is the only treatment which has shown slight improvement in boys who had no symptoms.This oil is a combination of fats extracted from rapeseed and olive oils.Researchers recommend that Lorenzo's oil when taken in combination with a moderately low fat diet, is a good therapy for all boys with adrenoleukodystrophy. (ygoy.com)
ABCD115
- Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy. (medlineplus.gov)
- In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. (nih.gov)
- The defective Gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein ( ATP-Binding Cassette Transporters ). (online-medical-dictionary.org)
- Adrenoleukodystrophy is an X-linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome. (adobe.com)
- Genetic testing showed hemizygous p.Arg554His mutation in the ABCD1 gene, confirming the diagnosis of adrenoleukodystrophy (ALD). (neurology.org)
- X-linked adrenoleukodystrophy is a neurodegenerative condition caused by loss of function of the peroxisomal ABCD1 transporter, in which oxidative stress plays a pivotal role. (sigmaaldrich.com)
- X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene and is characterized by impaired beta-oxidation of very-long-chain fatty acids (VLCFA) and subsequent VLCFA accumulation in tissues. (kennedykrieger.org)
- X-linked adrenoleukodystrophy is a common X-linked recessive peroxisomal disorder caused by the mutations in the ABCD1 gene. (sigmaaldrich.com)
- ALD is caused by mutations in the ABCD1 gene that affect the production of adrenoleukodystrophy protein and subsequently cause toxic accumulation of very long-chain fatty acids, primarily in the adrenal cortex and white matter of the brain and spinal cord. (europeanpharmaceuticalreview.com)
- Strikingly variable clinical phenotypes can be found in X-linked adrenoleukodystrophy (X-ALD) even with the same ABCD1 mutation. (surrey.ac.uk)
- Adrenoleukodystrophy is inherited as an X-linked genetic trait and is caused by an abnormality in the ABCD1 gene . (findatopdoc.com)
- X-linked adrenoleukodystrophy (ALD) is a severe brain demyelinating disease in boys that is caused by a deficiency in ALD protein, an adenosine triphosphate-binding cassette transporter encoded by the ABCD1 gene. (sciencemag.org)
- Background: X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1 , which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. (eurospe.org)
- X-linked adrenoleukodystrophy (X-ALD) is a rare genetic condition caused by mutations in the ABCD1 gene that result in accumulation of very long chain fatty acids (VLCFAs) in various tissues. (bioscientifica.com)
- X-linked adrenoleukodystrophy (ALD) is a progressive neurodegenerative disease caused by mutations in ABCD1, the peroxisomal very long-chain fatty acid (VLCFA) transporter. (cdc.gov)
Protein3
- In order to clarify the pathogenesis of X-linked adrenoleukodystrophy (ALD), complementary DNA for human very long chain fatty acyl-CoA synthetase (VLACS), which is deficient in ALD was cloned using rat cDNA.Human VLACS cDNA encodes 620 amino acids with high homology to rat enzyme and fatty acid transport protein and the gene was assinged to chromosome 15q21.2. (nii.ac.jp)
- A study conducted in 1999 found that retroviral-mediated adrenoleukodystrophy-related protein corrects very long chain fatty acid accumulation in fibroblasts (1). (webclearinghouse.net)
- People with adrenoleukodystrophy do not produce an essential protein, called a transporter protein. (medigoo.com)
Disorder31
- X-linked adrenoleukodystrophy is a genetic disorder that mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. (medlineplus.gov)
- Rarely, individuals with X-linked adrenoleukodystrophy develop multiple features of the disorder in adolescence or early adulthood. (medlineplus.gov)
- Adrenoleukodystrophy (ALD) is an X-linked neurodegenerative disorder characterized by elevated very long chain fatty acid (VLCFA) levels, reduced activity of peroxisomal VLCFA-CoA ligase, and variable phenotypic expression. (nih.gov)
- It is defective in X chromosome-linked adrenoleukodystrophy (ALD), a neurodegenerative disorder with impaired peroxisomal oxidation of very long chain fatty acids. (pnas.org)
- X-linked adrenoleukodystrophy (X-ALD), which was first described in 1923, was viewed until 1976 as a rare and inexorably fatal neurodegenerative disorder that affected boys. (nih.gov)
- Adrenoleukodystrophy is a disorder that occurs most often in males. (researchandmarkets.com)
- X-linked adrenoleukodystrophy is a devastating peroxisomal disorder with only limited options for treatment. (uva.nl)
- Adrenoleukodystrophy (also known as X-linked adrenoleukodystrophy, ALD ) is a rare, genetic disorder characterized by the breakdown or loss of myelin - the fatty covering surrounding nerve cells in the brain - and progressive dysfunction of the adrenal gland. (myelin.org)
- Adrenoleukodystrophy (ALD) is an X-chromosomal recessive disorder which leads to adrenal gland dysfunction. (alzheimer-europe.org)
- Adrenoleukodystrophy (ALD) is a rare, X-linked peroxisomal disorder of impaired very long-chain fatty-acid metabolism. (dovepress.com)
- X-linked adrenoleukodystrophy (X-ALD) is a recessive X-linked disorder associated with marked phenotypic variability. (scielo.br)
- adrenoleukodystrophy, X-linked disorder, heterozygous carriers. (scielo.br)
- X-linked adrenoleukodystrophy (X-ALD) is an X-linked recessive disorder that affects the brain white matter and that is associated with adrenal insufficiency 1 . (scielo.br)
- Although specific treatment is not available for this X-linked adrenoleukodystrophy disorder but treatment is given to reduce the symptoms. (ygoy.com)
- Adrenoleukodystrophy (ALD) is an X-linked inherited metabolic peroxisomal disorder characterised by a lack of oxidation of very long chain fatty acids (VLCFAs) that results in severe inflammatory demyelination of the periventricular deep white matter with posterior-predominant pattern and early involvement of the splenium of the corpus callosum and parietal white matter changes. (radiopaedia.org)
- X-linked adrenoleukodystrophy (ALD) is a rare inherited genetic disorder. (restonhospital.com)
- CALD is the severest form of adrenoleukodystrophy (ALD), a rare X chromosome-linked disorder that is estimated to affect one in 21,000 male newborns worldwide. (europeanpharmaceuticalreview.com)
- Adrenoleukodystrophy (ALD) is a genetic disorder that affects the nervous system and adrenal glands. (findatopdoc.com)
- DBS from confirmed patients with 1 of the 6 LSDs (n = 33), X-adrenoleukodystrophy (n = 9), or a peroxisomal biogenesis disorder (n = 5), as well as carriers for Fabry disease (n = 17) and X-adrenoleukodystrophy (n = 5), were analyzed for assay validation. (aaccjnls.org)
- Our flow injection tandem mass spectrometry approach is amenable to high-throughput population screening for Hurler disease, Gaucher disease, Niemann-Pick A/B disease, Pompe disease, Krabbe disease, Fabry disease, X-adrenoleukodystrophy, and peroxisomal biogenesis disorder in DBS. (aaccjnls.org)
- Adrenoleukodystrophy (ALD) is an X-linked disorder with diverse clinical presentations. (semanticscholar.org)
- Adrenoleukodystrophy is the brain disorder which destroys myelin the protective sheath surrounding the brain's neurons the nerve cells which allow us to control the muscles and to think. (healthician.org)
- Adrenoleukodystrophy is an X-linked disorder involving the accumulation of very long chain fatty acids (VLCFA) and demyelination of the brain and spinal cord, and primarily affects males. (webclearinghouse.net)
- Adrenoleukodystrophy (ALD) is a relatively rare, hereditary, X-linked disorder of peroxisomal fatty acid oxidation (7) affecting only males. (webclearinghouse.net)
- Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder characterized by the abnormal beta-oxidation of very long chain fatty acids (VLCFA). (biomedcentral.com)
- Adrenoleukodystrophy (ALD) is an X-linked, peroxisomal disorder of very long chain fatty acid (VLCFA) metabolism, resulting in the accumulation of VLCFA in the adrenal gland, testes and brain. (biomedcentral.com)
- Adrenoleukodystrophy (ALD) is a rare X-linked, inherited neurological disorder that, in its most severe form, causes damage to the myelin sheath (an insulating layer of membranes that surrounds nerve cells in the brain) and progressive dysfunction of the adrenal glands. (bluebirdbio.com)
- Adrenoleukodystrophy (ALD) is a rare metabolic disorder that gradually leads to the loss of the main cognitive, visual and motor skill functions, and thus brings the patient to vegetative state. (pharmaelle.com)
- Adrenoleukodystrophy (ALD), is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. (findmeacure.com)
- X-linked adrenoleukodystrophy (ALD) is rare genetic disorder, and children with ALD are at an increased risk of anesthetic mortality and morbidity [ 1 ]. (ekja.org)
- Adrenoleukodystrophy refers to an inherited disorder that mainly affects the adrenal gland , and the nervous system . (bvsalud.org)
Childhood4
- The childhood form of X-linked adrenoleukodystrophy is a progressive disease. (medlineplus.gov)
- Though adrenoleukodystrophy may not appear until adolescence or young adulthood, it is much more common in childhood, and generally the progressive deterioration results in the affected individual reaching a complete vegetative state in about 5 years, and eventually death (7). (webclearinghouse.net)
- Adult Adrenoleukodystrophy affects individuals over twenty years of age and presents symptoms such as loss of reflexes, adrenal glands disorders, neurological disorders, whose progression is rather slow compared to the childhood form. (pharmaelle.com)
- Adrenoleukodystrophy presenting as Addison's disease in childhood. (bvsalud.org)
Clinical4
- Narita S, Matsunaga M, Takebe K, Tamura T, Yoshimura K (1981) Adrenomyloneuropathy (a clinical variant of adrenoleukodystrophy) in a kindred. (springer.com)
- VKTX ), a clinical-stage biopharmaceutical company focused on the development of novel therapies for metabolic and endocrine disorders, today announced a sponsored research collaboration focused on evaluating the company's novel thyroid beta agonists for the treatment of X-linked adrenoleukodystrophy (X-ALD). (prnewswire.com)
- Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China. (sigmaaldrich.com)
- Abnormal MRI findings precede clinical findings in all forms of adrenoleukodystrophy 13 . (radiopaedia.org)
20174
- The latest Pharmaceutical and Healthcare disease pipeline guide Adrenoleukodystrophy - Pipeline Review, H1 2017, provides an overview of the Adrenoleukodystrophy (Genetic Disorders) pipeline landscape. (researchandmarkets.com)
- The latest Pharmaceutical and Healthcare latest pipeline guide Adrenoleukodystrophy - Pipeline Review, H1 2017, provides comprehensive information on the therapeutics under development for Adrenoleukodystrophy (Genetic Disorders), complete with analysis by stage of development, drug target, mechanism of action (MoA), route of administration (RoA) and molecule type. (researchandmarkets.com)
- Adrenoleukodystrophy (ALD) Sample Report covering Adrenoleukodystrophy (ALD) epidemiology from 2017 to 2030. (delveinsight.com)
- In 1999, together with Dr. Hugo Moser, he initiated the ALD database ( www.x-ald.nl ), which moved to www.adrenoleukodystrophy.info in 2017. (adrenoleukodystrophy.info)
Mutations2
Adrenal glands2
- Adrenoleukodystrophy (ALD) affects a person's adrenal glands and the growth of myelin. (disabled-world.com)
- Adrenoleukodystrophy is a genetic condition that primarily affects males and leads to problems with the adrenal glands and the nervous system. (thinkgenetic.com)
Recessive1
- Adrenoleukodystrophy is inherited in an X-linked recessive manner. (webclearinghouse.net)
Disease17
- Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. (wikipedia.org)
- Budka H, Sluga E, Heiss WD (1976) Spastic paraplegia associated with Addison's disease: Adult variant of adrenoleukodystrophy. (springer.com)
- Schaumburg HH, Powers JM, Suzuki K, Raine CS (1974) Adrenoleukodystrophy (sex-linked Schilder disease). (springer.com)
- Adrenoleukodystrophy (ALD) or Schilder-Addision Disease involves closely-related inherited disorders that disrupt breakdown of fats in the body. (disabled-world.com)
- Adrenoleukodystrophy (ALD) was first described in the early 1900's and referred to as, 'Schilder-Addision Disease. (disabled-world.com)
- Adrenoleukodystrophy (ALD) also known as Addison-Schilder Disease or Siemerling-Creutzfeldt Disease, is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. (science20.com)
- Adrenoleukodystrophy is a rare genetic disease characterized by a loss of myelin surrounding nerve cells in the brain and progressive adrenal gland dysfunction. (thefreedictionary.com)
- Disruption of mitochondrial function in adrenoleukodystrophy ALD is an inherited neurodegenerative disease characterized by demyelination in the brain and/or axon injury in the spinal cord, adrenal insufficiency and accumulation of very long chain fatty acids (VLCFAs) in plasma and tissues. (ela-asso.com)
- Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease. (uio.no)
- For more information on the disease including testing strategy, disease overview, and genetics, visit the X-Linked Adrenoleukodystrophy topic in ARUP Consult. (arupconsult.com)
- In this study, we provide evidence of impaired mitochondrial metabolism in a peroxisomal disease, as fibroblasts in patients with X-linked adrenoleukodystrophy cannot survive when forced to rely on mitochondrial energy production, i.e. on incubation in galactose. (sigmaaldrich.com)
- C22:0) accumulate in X-linked adrenoleukodystrophy (X-ALD, OMIM 300100), a severe hereditary neurodegenerative disease, due to peroxisomal impairment. (oup.com)
- Though all daughters of a male with the adrenoleukodystrophy disease are carriers, they are usually not seriously affected. (webclearinghouse.net)
- Adrenoleukodystrophy New s is strictly a news and information website about the disease. (adrenoleukodystrophynews.com)
- C22:0) induced neuroinflammatory demyelinating disease and to evaluate the efficacy of interventions of these signaling pathways as possible therapeutics for X-Adrenoleukodystrophy (X-ALD). (grantome.com)
- Adrenoleukodystrophy, or ALD, is a deadly genetic disease that affects 1 in 17,000 people. (aldnewbornscreening.org)
- IMSEAR at SEARO: X-linked adrenoleukodystrophy presenting as Addison disease. (who.int)
Diagnosis4
- Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. (medlineplus.gov)
- X-linked adrenoleukodystrophy as differential diagnosis of primary progressive multiple sclerosis. (uio.no)
- Since Adrenoleukodystrophy has symptoms that resemble many other neurological conditions, diagnosis is difficult. (findatopdoc.com)
- Adrenoleukodystrophy diagnosis: how does it happen? (pharmaelle.com)
Leukodystrophies4
- Adrenoleukodystrophy (ALD) is a member of a group of diseases, leukodystrophies, that cause damage to the myelin sheath of nerve cells. (thefreedictionary.com)
- X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. (brainfacts.org)
- Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the Leukodystrophies. (onlymyhealth.com)
- Abbreviation: ALD.Adrenoleukodystrophy is one of a group of inherited disorders called leukodystrophies in which the fatty covering of nerve fibres, the myelin sheath, is progressively damaged because of a faulty gene. (medigoo.com)
Symptoms of X-linked adrenoleukody1
- The destruction of these tissues leads to the signs and symptoms of X-linked adrenoleukodystrophy. (coem.com)
Case of adrenoleukodystrophy1
- A case of adrenoleukodystrophy was studied morphologically and biochemically. (springer.com)
Cases of adrenoleukodystrophy2
- We retrospectively reviewed a series of biochemically or genetically confirmed cases of adrenoleukodystrophy followed at our institution between 2001 and 2015. (nih.gov)
- Authors experienced three cases of adrenoleukodystrophy in a 7 year old boy, a 17 and a 210 year old males that were diagnosed by increased plasma content of very long chain fatty acid(VLCFA). (koreamed.org)
Children with adrenoleukodystrophy1
- Adrenal functions in children with adrenoleukodystrophy. (bvsalud.org)
Prevention of Adrenoleukodystrophy1
- SALD is a non-profit Medical Research Organization dedicated to employing entrepreneurial approaches and innovative methodology towards effective therapies, cures, and prevention of adrenoleukodystrophy. (adrenoleukodystrophy.info)
Disorders11
- Adrenoleukodystrophy describes several closely related disorders that disrupt the breakdown of certain fats. (medlineplus.gov)
- Adrenoleukodystrophy (Genetic Disorders) pipeline guide helps in identifying and tracking emerging players in the market and their portfolios, enhances decision making capabilities and helps to create effective counter strategies to gain competitive advantage. (researchandmarkets.com)
- The pipeline guide provides a snapshot of the global therapeutic landscape of Adrenoleukodystrophy (Genetic Disorders). (researchandmarkets.com)
- The pipeline guide reviews pipeline therapeutics for Adrenoleukodystrophy (Genetic Disorders) by companies and universities/research institutes based on information derived from company and industry-specific sources. (researchandmarkets.com)
- The pipeline guide reviews key companies involved in Adrenoleukodystrophy (Genetic Disorders) therapeutics and enlists all their major and minor projects. (reportlinker.com)
- The pipeline guide evaluates Adrenoleukodystrophy (Genetic Disorders) therapeutics based on mechanism of action (MoA), drug target, route of administration (RoA) and molecule type. (reportlinker.com)
- Find and recognize significant and varied types of therapeutics under development for Adrenoleukodystrophy (Genetic Disorders). (reportlinker.com)
- Adrenoleukodystrophy (ALD) is a group of inherited disorders in which fatty covering of the nerve fibres is damaged progressively because of a faulty gene. (ygoy.com)
- International Workshop on Adrenoleukodystrophy and Peroxisomal Disorders (1989 : Rome, Italy). (worldcat.org)
- Adrenoleukodystrophy and other peroxisomal disorders. (worldcat.org)
- CAMBRIDGE, Mass., June 19, 2012 -- bluebird bio, a leader in the development of innovative gene therapies for severe genetic disorders, announced today that both the U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA) have granted an orphan drug designation to its investigational gene therapy product for the treatment of adrenoleukodystrophy (ALD). (bluebirdbio.com)
Neurologic2
- P Aubourg, S Blache, I Jambaqué: Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. (alzheimer-europe.org)
- The most common symptoms in X-linked adrenoleukodystrophy (X-ALD) are both neurologic and endocrine in nature. (thecardiologyadvisor.com)
Findings3
- The morphological and biochemical findings in this case are identical with those in typical adrenoleukodystrophy, but the topographical distribution of the lesions is distinctly different. (springer.com)
- Adrenoleukodystrophy: new CT findings. (radiopaedia.org)
- For further information on specific findings, please visit the Pharmaelle section on Adrenoleukodystrophy products. (pharmaelle.com)
Phenotype3
- H. W. Moser: Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. (alzheimer-europe.org)
- Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report. (uio.no)
- Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. (radiopaedia.org)
Phenotypes1
- B M van Geel, L Bezman, D J Loes, H W Moser, G V Raymond: Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy. (alzheimer-europe.org)
Patients6
- Mutational analysis of patients with X-linked adrenoleukodystrophy. (nih.gov)
- Morten Andreas Horn and his coworkers have surveyed the Norwegian population of patients with X-linked adrenoleukodystrophy. (uio.no)
- Notably, treatment with antioxidants rescues mitochondrial damage markers in fibroblasts from patients with X-linked adrenoleukodystrophy, including cyclophilin D oxidative modifications, and reverses cyclophilin D induction in vitro and in vivo. (sigmaaldrich.com)
- In this study, we analyzed 19 male patients and 9 female carriers with X-linked adrenoleukodystrophy in South China. (sigmaaldrich.com)
- Selective receptor-mediated impairment of growth factor activity in neonatal- and X-linked adrenoleukodystrophy patients. (bioportfolio.com)
- neonatal - and X-linked adrenoleukodystrophy patients. (bioportfolio.com)
Inborn error1
- Adrenoleukodystrophy is an inborn error of metabolism characterized by adrenal insufficiency and progressive demyelmation of brain white matter and peripheral nerves. (koreamed.org)
Treatment4
- A specific treatment for X-linked adrenoleukodystrophy is not available. (medlineplus.gov)
- What is the treatment for Adrenoleukodystrophy (ALD)? (sharecare.com)
- There are no treatment strategies that can provide a complete cure for Adrenoleukodystrophy. (findatopdoc.com)
- MD1003 is an experimental treatment for adrenoleukodystrophy (ALD) developed by MedDay Pharmaceuticals . (adrenoleukodystrophynews.com)
Asymptomatic1
- Some individuals with the asymptomatic form may develop features of other types of X-linked adrenoleukodystrophy later in life. (medlineplus.gov)