Amino Acid Transport Disorders, Inborn

Amino Acid Transport Systems

Amino Acids

Aminoisobutyric Acids

Amino Acid Transport Systems, Basic

Biological Transport

Amino Acid Transport System A

Biological Transport, Active

Amino Acid Transport System L

Errors26

• Inborn errors of renal tubular transport are metabolic disorders which lead to impairment in the ability of solutes, such as salts or amino acids, to be transported across the brush border of the renal tubule. (wikipedia.org)
• Evaluating patients with possible inborn errors of metabolism using random urine specimens. (marshfieldlabs.org)
• Many inborn errors of amino acid metabolism that affect amino acid transport or metabolism have been identified, such as phenylketonuria and tyrosinemia. (marshfieldlabs.org)
• Further topics will include detailed description of inborn errors of metabolism of sulfur amino acids and B-vitamins, association of B-vitamin disturbances with common disorders, diagnostic algorithms for hyperhomocysteinemias and methylation disorders including new-born screening strategies. (com.es)
• Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. (umassmed.edu)
• Approach to the Patient With a Suspected Inherited Disorder of Metabolism Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. (merckmanuals.com)
• Lipid Metabolism, Inborn Errors" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (musc.edu)
• Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. (musc.edu)
• This graph shows the total number of publications written about "Lipid Metabolism, Inborn Errors" by people in this website by year, and whether "Lipid Metabolism, Inborn Errors" was a major or minor topic of these publications. (musc.edu)
• Below are the most recent publications written about "Lipid Metabolism, Inborn Errors" by people in Profiles. (musc.edu)
• Inborn errors of taurine metabolism have been described. (selfdecode.com)
• Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. (nih.gov)
• The training program includes intensive interactions with children and adults with inborn errors of metabolism. (ucla.edu)
• Carbohydrate metabolism, inborn errors refer to genetic disorders that affect the body's ability to properly process carbohydrates, leading to various metabolic disorders. (lookformedical.com)
• Over recent years we have been able to distribute samples from patients with a wide range of inborn errors including amino acid, organic acid, energy metabolism, mucopolysaccharide, sphingolipid storage, purine/pyrimidine, peroxisomal and creatine synthesis disorders but now our resources are becoming stretched and it is becoming difficult to source suitable samples for use as EQA materials. (erndim.org)
• Introduction: Inborn errors of metabolism (IEM) are diseases caused by genetic disorders that alter the function of different metabolic pathways. (bvsalud.org)
• In 1908, physician Sir Archibald Garrod coined the term "inborn errors of metabolism" to suggest that defects in specific biochemical pathways were due to an inadequate supply or a lack of a given enzyme. (newworldencyclopedia.org)
• inborn errors of metabolism are caused by mutant genes that produce abnormal enzymes whose function is altered. (newworldencyclopedia.org)
• The implementation of newborn screening programs for inborn errors of metabolism has advanced the diagnosis and management of affected infants and undoubtedly improved their outcomes. (biomedcentral.com)
• We aimed to determine out-of-pocket health expenditures of patients with inborn errors of metabolism during follow-up and treatment processes and to determine the economic burden on the families. (biomedcentral.com)
• A total of 232 patients who voluntarily agreed to participate in the study and were regularly followed up in the Department of Pediatric Metabolism with the diagnosis of Inborn Errors of Metabolism between April 2022 and July 2022 were included. (biomedcentral.com)
• It is necessary to carry out more comprehensive studies to determine and prevent the socioeconomic effects of out-of-pocket health expenditures of patients living with Inborn Errors of Metabolism. (biomedcentral.com)
• Inborn errors of metabolism, characterized by disruption of metabolic pathways due to deficient enzymes, cofactors, or transporters, also known as inherited metabolic diseases, constitute a group of diseases presenting with different signs. (biomedcentral.com)
• Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. (cdc.gov)
• The focus of this research paper will be on the three major categories of inborn errors of metabolism as described above. (essayempire.com)
• Untangling the Spirals of Metabolic Disease: Primary Diagnoses and Secondary Effects: Implications for Treatment David A. H. Whiteman MD 1909 Archibald Garrod In his paper, Inborn Errors of Metabolism, the disease Alkaptonuria (Ochronosis: Homogentisic Acid Oxidase Deficiency) is described as being caused by a gene. (abcdocz.com)

Deficiency11

• These disorders result in the accumulation or the deficiency of 1 or more amino acids in biological fluids, which leads to the clinical signs and symptoms of the particular amino acid disorder. (marshfieldlabs.org)
• Familiarizing with practical issues in diagnosing and treating patients with CBS deficiency and remethylation disorders. (com.es)
• Urinary orotic acid generally is very elevated in babies with OTC deficiency and normal or even low in infants with CPS deficiency. (nih.gov)
• Patients with OTC deficiency have increased excretion of orotic acid because carbamyl phosphate spills into the cytoplasm, where it enters the pathway of pyrimidine synthesis. (nih.gov)
• [ 1 ] Intracellular carnitine deficiency impairs the entry of long-chain fatty acids into the mitochondrial matrix. (medscape.com)
• In secondary carnitine deficiency, which is caused by other metabolic disorders (eg, fatty acid oxidation disorders, organic acidemias), carnitine depletion may be secondary to the formation of acylcarnitine adducts and the inhibition of carnitine transport in renal cells by acylcarnitines. (medscape.com)
• Valproic acid may cause an acquired type of secondary carnitine deficiency by directly impairing renal tubular reabsorption of carnitine. (medscape.com)
• Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. (supplemented.co.uk)
• Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. (lookformedical.com)
• Phenylketonuria (PKU) and biotinidase deficiency (BD) are metabolic disorders that are commonly encountered in Turkey. (biomedcentral.com)
• MSUD is caused by a deficiency of the BCKD complex, which catalyses the decarboxylation of the alpha-keto acids of leucine, isoleucine, and valine to their respective branched-chain acyl-CoAs. (medscape.com)

Defects7

• General elevations in urine amino acid levels, called aminoaciduria, can be seen in disorders with amino acid transport defects such as lysinuric protein intolerance and Hartnup disease, as well as in conditions with renal tubular dysfunction including Lowe syndrome and Dent disease. (marshfieldlabs.org)
• Knowledge on frequency, pathophysiology, clinical manifestation, diagnosis and treatment of homocystinurias, methylation defects and genetic disorders of B-vitamin metabolism. (com.es)
• Defects of amino acid transport in the renal tubule include cystinuria and Hartnup disease, which are discussed elsewhere. (merckmanuals.com)
• Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. (uams.edu)
• A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation. (lookformedical.com)
• The three main categories of disease include the mitochondrial myopathies, fatty acid oxidation defects (FAODs), and glycogen storage diseases (GSDs). (essayempire.com)
• Although other conditions, such as amino acid and fatty acid oxidation defects, also occur in the mitochondria, they are not traditionally considered part of the mitochondrial disorders. (essayempire.com)

Phenylketonuria2

• Individuals with amino-alkanoic acid metabolism disorder phenylketonuria (PKU) are unable to method phenylalanine properly. (beehealthy.org)
• NBS started in just a few states screening for a single disorder - phenylketonuria - and has grown to a core panel of 37 conditions. (cdc.gov)

Error of metabolism4

• Due to the importance of this disease, children are usually screened for an inborn error of metabolism before long when birth. (beehealthy.org)
• Individuals with an inborn error of metabolism are placed on a special low-protein diet, that is mostly maintained forever. (beehealthy.org)
• Inborn error of metabolism. (albionfoundation.org)
• An inborn error of metabolism is suspected. (abcdocz.com)

Carnitine4

• Fatty acids enter the mitochondria via the carnitine transport cycle (medium chain fatty acids enter independently of carnitine) into the β-oxidation spiral in which fatty acids, via a series of enzymes, produce acetyl-CoA and electron carriers. (oncohemakey.com)
• Carnitine is a naturally occurring hydrophilic amino acid derivative, produced endogenously in the kidneys and liver and derived from meat and dairy products in the diet. (medscape.com)
• SLC22A5 mutations can affect carnitine transport by impairing maturation of transporters to the plasma membrane. (medscape.com)
• Of the following, the MOST appropriate laboratory study to obtain is A. B. C. D. E. leukocyte lysosomal enzyme activities plasma long-chain fatty acid levels serum carnitine level urine for reducing substances urine organic acid levels A 3-month-old infant who has a history of gastroesophageal reflux has had increasing vomiting for 2 days. (abcdocz.com)

Biochemical9

• Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features. (medscape.com)
• These biochemical reactions frequently involve cofactors, often vitamins, which help the specific enzyme function, e.g. vitamin B 6 is the cofactor for the enzyme cystathionine β synthase which converts the amino acid homocysteine into cystathionine. (oncohemakey.com)
• He/She provides direct and consultative care for individuals of all ages who are diagnosed with biochemical disorders. (ucla.edu)
• The Medical Biochemical Geneticist will be trained to care for patients with metabolic disorders and learn diagnosis and monitoring of patients with this family of conditions. (ucla.edu)
• Transport of the samples to ERNDIM can be organised through your local Biochemical genetic testing lab and ERNDIM will pay reasonable transport costs for pre-agreed samples but please contact ERNDIM ( [email protected] ) before sending any samples. (erndim.org)
• A metabolic disorder is any disease or disorder that negatively affects the biochemical reactions through which individual animal cells process nutrient molecules (such as the components of carbohydrates , proteins , and fats ) to yield energy or perform the functions necessary to sustain life (such as building complex molecules and creating cellular structure). (newworldencyclopedia.org)
• These recommendations are intended for laboratories that perform biochemical genetic testing to improve the quality of laboratory services and for newborn screening laboratories to ensure the quality of laboratory practices for inherited metabolic disorders. (cdc.gov)
• Then biochemical assays such as oxidative phosphorylation activity by respiratory chain enzymes were used to characterize enzyme disorders (eg, complex 1 or complex 3 deficiencies). (medlink.com)
• The named and biochemical disorders may or may not have been caused by their initially described genetic variation, but potentially by other gene variations. (medlink.com)

Pathways1

• Because anticonvulsants work (at least in part) by blocking glutamate pathways in the brain, high dosages of the amino acid glutamine might theoretically diminish an anticonvulsant's effect and increase the risk of seizures. (epnet.com)

Urine3

• Children also manifest extreme hyperactivity, gait disturbance, and psychoses and often exhibit an unpleasant, mousy body odor caused by phenylacetic acid (a breakdown product of phenylalanine) in urine and sweat. (merckmanuals.com)
• Maple syrup urine disease (MSUD) is an aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. (medscape.com)
• After an expanded newborn screening, she had plasma amino acid analysis, urine metabolic screening and urine organic acid profile done at 6 weeks of age, which show mild ketosis with mild lactic acidosis. (jmust.org)

Catabolic1

• Figure 17.1 illustrates the metabolic processes involved in the overall metabolism of carbohydrates, fats and protein including the catabolic processes to produce energy and urea (the product of the detoxification of the nitrogen moiety of amino acids) and anabolic processes to form tissue protein and energy stores, glycogen and lipids. (oncohemakey.com)

Metabolism disorder1

• When it is necessary to suspect metabolism disorder? (clingenetic.com.ua)

LIPIDS2

• G-6-PO 4 can also be produced via pyruvate from protein catabolism of glucogenic amino acids ( Table 17.1 ) or breakdown of glycerol from lipids (gluconeogenesis). (oncohemakey.com)
• Dietary fats, and lipids produced endogenously from acetyl-CoA, are initially hydrolysed by lipases into glycerol and free fatty acids. (oncohemakey.com)

Mitochondria3

• Acetyl-CoA enters the Krebs cycle, also known as the citric acid or tricarboxylic (TCA) cycle, within the mitochondria. (oncohemakey.com)
• It plays an essential role in the transfer of long-chain fatty acids into the mitochondria for beta-oxidation. (medscape.com)
• ОА, caused by the disorder of bioenergy processes (Creb's cycle), cellular breath, oxidative phosphorylation in mitochondria of cells. (clingenetic.com.ua)

Degradation2

• An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. (mcw.edu)
• To produce energy G-6-PO 4 (derived from monosaccharides from dietary CHO or produced from glycogen degradation by glycogenolysis) is converted by a series of enzyme reactions in the glycolytic pathway to form pyruvate or lactic acid, then to acetyl-CoA, which is also produced from fatty acid oxidation and degradation of the carbon skeleton of glucogenic amino acids ( Table 17.1 ). (oncohemakey.com)

Alanine2

• Plasma concentrations of glutamine and alanine, the major nitrogen-carrying amino acids, usually are high and that of arginine is low. (nih.gov)
• The amino acids alanine and glutamic acid, as well as pantothenic acid, inhibit taurine metabolism while vitamins A and B6, zinc and manganese help build taurine. (selfdecode.com)

Cell membranes3

• Disorders characterized by defective transport of amino acids across cell membranes. (ouhsc.edu)
• Taurine has many diverse biological functions serving as a neurotransmitter in the brain, a stabilizer of cell membranes and a facilitator in the transport of ions such as sodium, potassium, calcium and magnesium. (selfdecode.com)
• Mammalian cells cannot synthesis RF endogenously, and thus, must obtain this essential micronutrient from their surroundings via transport across cell membranes. (biomedcentral.com)

Intestine6

• Hartnup disease is an autosomal recessive disorder caused by impaired neutral (ie, monoaminomonocarboxylic) amino acid transport in the apical brush border membrane of the small intestine and the proximal tubule of the kidney. (medscape.com)
• SLC6A19 is a sodium-dependent and chloride-independent neutral amino acid transporter, expressed predominately in the kidneys and intestine. (medscape.com)
• Mutations in the SLC6A19 gene, which encodes the SLC6A19 (B 0 AT1) neutral amino acid transporter, causes a failure of the transport of neutral (ie, monoaminomonocarboxylic) amino acids in the small intestine and the renal tubules. (medscape.com)
• An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. (uchicago.edu)
• Carbohydrates, as monosaccharides (glucose, fructose, galactose), are absorbed in the intestine and then transported to the liver where excess glucose, galactose and fructose are converted to glucose-6-phosphate (G-6-PO 4 ). (oncohemakey.com)
• A test tube study suggested that anticonvulsants might lower biotin levels by interfering with the way biotin is transported in the intestine. (epnet.com)

Specific amino acid2

• The clinical presentation is dependent upon the specific amino acid disorder. (marshfieldlabs.org)
• Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. (lookformedical.com)

Essential amin4

• L-phenylalanine is a necessary amino-alkanoic acid and is that the sole sort of essential amino acid found in proteins. (beehealthy.org)
• Therefore there was hope that providing essential amino acid may treat ADHD. (beehealthy.org)
• Yet taurine is an essential amino acid in pre-term and newborn infants of humans and many other species. (selfdecode.com)
• Is ornithine an essential amino acid? (supplemented.co.uk)

Protein11

• Eating a range of protein-rich foods throughout the day can give you with all the l-phenylalanine you wish, at the side of alternative essential amino acids. (beehealthy.org)
• It is a lesser-known amino acid because it is not incorporated into the structural building blocks of protein. (selfdecode.com)
• Dietary protein is broken down into 20 individual amino acids for absorption. (oncohemakey.com)
• For instance, ornithine and arginine promote the secretion of growth hormone, which enhances protein synthesis, and therefore these amino acids supplements are expected to aid muscle hypertrophy. (supplemented.co.uk)
• Any of the enzymatically catalyzed modifications of the individual AMINO ACIDS of PROTEINS, and enzymatic cleavage or crosslinking of peptide chains that occur pre-translationally (on the amino acid component of AMINO ACYL TRNA), co-translationally (during the process of GENETIC TRANSLATION), or after translation is completed (POST-TRANSLATIONAL PROTEIN PROCESSING). (lookformedical.com)
• Most metabolic disorders are inherited from one or both parents who carry a defective gene that regulates a particular protein in a class of the body's cells. (newworldencyclopedia.org)
• The protein contains 323 amino acids. (bionity.com)
• We used comparative protein-structure modelling to predict residues that interact with two amino acids known to be critical for hRFVT-2 function (the clinical mutants L123 and L339), site-directed mutagenesis, and truncation approach in the human-derived brain U87 cell model. (biomedcentral.com)
• this inhibition was associated with changes in protein stability/translation efficiency (in the case of V120A and L342A) and an impairment in transport function (in the case of L121). (biomedcentral.com)
• Our aim in this study was to expand our knowledge in these areas, and we used a comparative protein-structure modelling to predict residues that interact with two amino acids known to be critical for hRFVT-2 function, i.e. (biomedcentral.com)
• Reducing equivalents produced in the Krebs cycle and in the beta-oxidation spirals are passed along a series of protein complexes embedded in the inner mitochondrial membrane (the electron transport chain). (medlink.com)

Leucine1

• Leucine is rapidly transported across the blood-brain barrier and is metabolized to presumably yield glutamate and glutamine. (medscape.com)

Proteins3

• Amino acids are the basic structural units that comprise proteins and are found throughout the body. (marshfieldlabs.org)
• Phenylalanine is an amino acid, which is "building blocks" of proteins. (beehealthy.org)
• A non-essential and nonprotein amino acid, ornithine is critical for the production of the body's proteins, enzymes and muscle tissue. (supplemented.co.uk)

Glutamic acid2

• It also lowers glutamic acid in the brain, and preliminary clinical trials suggest taurine may be useful in some forms of epilepsy. (selfdecode.com)
• The parathyroid gland makes a peptide hormone called glutataurine (glutamic acid-taurine), which further demonstrates taurine's role in endocrinology. (selfdecode.com)

Compounds3

• This course will give an overview of sulfur amino acids metabolism and of related sulfur containing compounds and its dependence on functional B-vitamin processing. (com.es)
• Catabolism is the breakdown of large complex molecules to provide energy for cellular activity and smaller compounds, e.g. amino acids, needed for anabolic reactions or for elimination from the body. (oncohemakey.com)
• In the following years, Dancis et al identified the pathogenetic compounds as branched-chain amino acids and their corresponding alpha-keto acids. (medscape.com)

Epithelial2

• [ 10 , 11 ] In an animal model of Hartnup disorder, mice lacking SLC6A19 (B 0 AT1) transporter general neutral aminoaciduria were observed, as well as the decreased body weight, demonstrating the essential role of epithelial amino acid uptake in optimal growth and bodyweight regulation. (medscape.com)
• Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder. (medscape.com)

Congenital2

• A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. (uams.edu)
• Congenital disorders of glycosylation. (lookformedical.com)

Mutations5

• Both studies demonstrated that mutations in SLC6A19 are associated with Hartnup disorder. (medscape.com)
• The requirement for 2 transport-impairing mutations for disease expression confirmed a recessive mode of inheritance. (medscape.com)
• Currently, 17 mutations in SLC6A19 have been described in patients with Hartnup disorder. (medscape.com)
• In addition to the vast array of mutations found within the maternally inherited mitochondrial DNA (mtDNA), there is an increasing recognition of the mitochondrial disorders arising from mutations within the nuclear genome and following Mendelian genetic inheritance patterns. (essayempire.com)
• After reminding the reader of the basic concepts of mitochondrial genetics, she offers examples of disorders due to mutations in mitochondrial DNA and mutations in nuclear DNA. (medlink.com)

Hartnup6

• in consanguineous Japanese pedigrees demonstrated linkage of Hartnup disorder to band 5p15. (medscape.com)
• In all investigated individuals with Hartnup disorder, 2 mutant SLC6A19 alleles were found, confirming recessive mode of inheritance. (medscape.com)
• [ 14 ] The most common mutation in Hartnup disorder is c.517G→A, resulting in the amino acid substitution p.D173N, and it can be found in 43% of patients. (medscape.com)
• A novel mutation, c.850G→A, in exon 6 of the SLC6A19 gene was described in a Chinese family with typical clinical characteristics of Hartnup disorder. (medscape.com)
• [ 30 ] as well as a patient with manifestations of kwashiorkor and acrodermatitis enteropathica but with normal zinc levels, which led to the search for other metabolic disorders, and Hartnup disorder was confirmed. (medscape.com)
• Wilcken et al found that of 14 patients with Hartnup disorder who were observed for 8 years, 10 had height percentiles less than the midparent height percentiles, while 4 had percentiles equal to or above the midparent percentiles. (medscape.com)

Sulfur2

• Metabolism of sulfur amino acids is intertwined with metabolism and transport of folates and several B- vitamins. (com.es)
• Dietary supplement, e.g. in Red Bull drink Taurine is a sulfur amino acid like methionine, cystine, cysteine and homocysteine. (selfdecode.com)

Tyrosine1

• Dietary treatment involves use of a medical food/formula, PHE free and nutritionally complete with 100-120 mg/kg/day tyrosine and total amino acid content of at least 3 g/kg/day for children under 24 months and maintained at 2 g/kg/day for children over 24 months. (nih.gov)

Mitochondrial disorders4

• Mitochondrial disorders represent a diverse group of conditions with a primary defect in electron transport chain function. (essayempire.com)
• Genetic testing for mitochondrial disorders using sequence analysis and deletion testing of the mitochondrial genome was negative and identified no pathogenic variant. (jmust.org)
• Mitochondrial disorders describe a broad range of disorders that have multiple genetic causes and variable symptoms and signs. (medlink.com)
• In general, mitochondrial disorders are disorders of energy production. (medlink.com)

Defect2

• Metabolic disorders typically result when an enzyme necessary for some step in a metabolic process is missing or improperly constructed due to a genetic defect. (newworldencyclopedia.org)
• [ 2 ] In 1960, Dancis et al demonstrated that the enzymatic defect in MSUD was at the level of the decarboxylation of the branched-chain amino acids. (medscape.com)

Kidneys2

• Overview of Amino Acid and Organic Acid Metabolism Disorders The kidneys actively reabsorb significant amounts of amino acids. (merckmanuals.com)
• Creatine (N-(aminoiminomethyl-N-methyl glycine) is an important amino acid based metabolite produced in the kidneys, liver and pancreas and used by the muscle in the production of energy [ 1-3 ]. (oatext.com)

Defective1

• an enzyme defective within a particular organ or tissue, such as the liver , muscle , or brain , might lead to low energy production or prevent transport to the part of the body requiring energy. (newworldencyclopedia.org)

Liver4

• In disorders of fatty acid oxidation, excessive lipid accumulation occurs in muscle, heart, and liver, with cardiac and skeletal myopathy and hepatomegaly. (medscape.com)
• The presence of pathologic changes in a pregnant, such as continued toxicosis or an acute fatty dystrophy of the liver, can be the result of the disorder of fatty acid oxidation in a fetus. (clingenetic.com.ua)
• Given the number of metabolic disorders and the range of systems affected, these disorders are manifested in a wide array of symptoms of varying severity, ranging from recurrent vomiting, lethargy, and muscle weakness, to liver and heart failure, developmental delay, and mental retardation. (newworldencyclopedia.org)
• Seizures from metabolic liver disorders. (albionfoundation.org)

Diagnosis4

• The rate of catastrophic expenditure of patients with a diagnosis of Amino Acid Metabolism Disorders was found to be higher than that of patients with a diagnosis of Vitamin and Cofactor Metabolism Disorders. (biomedcentral.com)
• Similarly, patients with a diagnosis of lysosomal storage diseases had more expenditures than patients with a diagnosis of vitamin and cofactor metabolism disorders. (biomedcentral.com)
• Child neurologist and medical geneticist focusing on the diagnosis and management of rare neurologic disorders. (stanford.edu)
• Finally, multisystem disorders such as the mitochondrial myopathies may be mislabeled as multiple sclerosis (MS), nonspecific encephalopathy, or vasculitis, and accurate diagnosis can avoid inappropriate therapeutic interventions such as b-interferon for MS or cyclophosphamide for vasculitis. (essayempire.com)

Fatty acids3

• Dietary fat is present mainly as long chain triglycerides, comprising a glycerol backbone and fatty acids. (oncohemakey.com)
• Consequently, long-chain fatty acids are not available for beta-oxidation and energy production, and the production of ketone bodies (which are used by the brain) is also impaired. (medscape.com)
• ОА, caused by the disorder of transport or mitochondrial oxidation of fatty acids. (clingenetic.com.ua)

Newborn2

• Part VI Metabolic Disorders of the Newborn 21. (booksca.ca)
• Increasingly, tandem mass spectrometry (MS/MS) is being used for newborn screening because this laboratory testing technology substantially increases the number of metabolic disorders that can be detected from dried blood-spot specimens. (cdc.gov)

Infants2

• Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration in untreated infants. (medscape.com)
• In 1954, Menkes et al reported a family in which 4 infants died within the first 3 months of their lives because of a neurodegenerative disorder. (medscape.com)

Disease2

• l-phenylalanine is employed for depression, attention deficit-hyperactivity disorder (ADHD), Parkinson's unwellness, chronic pain, degenerative joint disease, an autoimmune disorder, alcohol withdrawal symptoms, and a skin disorder referred to as vitiligo. (beehealthy.org)
• Aside from her brother, the family genogram (Figure 3) revealed no significant illness that would indicate a mitochondrial or hereditary neurodegenerative disease, and all other half-siblings from both parents' first marriages showed no signs of neurologic disorder. (jmust.org)

Arginine1

• However, ornithine might help to increase levels of the amino acid, arginine. (supplemented.co.uk)

Accumulation1

• Organic acidurias (acidemias) - a group of inherent diseases, which is characterized by the disorder of intermediate metabolism with the accumulation of carboxyl acids. (clingenetic.com.ua)

Dietary2

• [ 3 ] Snyderman et al initiated the first successful dietary treatment of MSUD by restricting intake of branched-chain amino acids. (medscape.com)
• Even people with a more severe neurological disorder may find dietary modification provides a benefit. (epiphanyasd.com)