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Zellweger SyndromePeroxisomal DisordersMicrobodiesAdrenoleukodystrophyRefsum DiseasePeroxisomesPlasmalogensPhytanic AcidChondrodysplasia Punctata, RhizomelicChondrodysplasia PunctataPeroxisomal Multifunctional Protein-2Acetyl-CoA C-AcetyltransferaseSyndromeFatty AcidsLipid Metabolism, Inborn ErrorsFibroblastsRefsum Disease, InfantileXylarialesMuscle HypotoniaPipecolic AcidsMembrane ProteinsOxidation-ReductionPichiaAcyl-CoA OxidaseCatalaseMutationGenetic Complementation TestGas Chromatography-Mass SpectrometryReceptors, Cytoplasmic and NuclearGeneticsMolecular Sequence DataIntracellular MembranesBiogenesisAmino Acid SequenceEnoyl-CoA HydrataseDiffuse Cerebral Sclerosis of SchilderPhenotypeLiverBase SequencePeroxisomal Bifunctional EnzymeCell FusionCHO CellsAcetyl-CoA C-AcyltransferaseBipolar DisorderCricetinaeMicroscopy, Electron
Peroxisome Biogenesis DisorderRhizomelic chondrodNeonatalBiochemical GeneticsGenesInfantilePeroxisomesMetabolismMutationSpectrum DisorderAutosomal dominantMitochondrialGenomicsPBDsAbnormalitiesMyelinHomozygousMuscular hypotoniaMolecularProteinsGenetically heterogeneousMetabolicDiseaseDysplasiaShort rib-polyPhenotypesAdrenoleukodystrophyGuidelinesPatientsGeneticCongenitalBoneRecurrentIncludeDefectsMedicalYearTypeNormalFeaturesChildSpecific
Peroxisome Biogenesis Disorder1
Rhizomelic chondrod2
Neonatal2
Biochemical Genetics1
  • The Biochemical Genetics Laboratory was also established along with the Newborn Screening Programme to provide confirmatory tests for newborn screening cases, diagnostic tests for inborn errors of metabolism and ongoing monitoring for affected patients. (kkh.com.sg)
Genes4
  • This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis. (wikipedia.org)
  • This is an autosomal recessive peroxisomal biogenesis disorder (PBD) resulting from mutations in a number of PEX genes ( PEX1 , PEX2 , PEX3 , PEX12 , PEX26 ). (arizona.edu)
  • Zellweger spectrum disorder (ZSD) is a group of autosomal recessive disorders caused by biallelic pathogenic variants in any one of the 13 PEX genes essential for peroxisomal biogenesis. (stanford.edu)
  • It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES . (nih.gov)
Infantile2
  • Even though neurometabolic disorders are always on the differential diagnosis list when initially assessing a child with Infantile Spasms or a different epileptic encephalopathy , the frequency of these mainly recessive disorders appears to be very rare. (epilepsygenetics.net)
  • All molecularly confirmed individuals (n=17) with either no symptoms (n=12), migraines (n=1), or a neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) phenotype (n=3) were found to have an A or U mitochondrial haplogroup, while one child with infantile-lethal Leigh syndrome had a B haplogroup. (stanford.edu)
Peroxisomes2
Metabolism2
  • Molecular Genetics and Metabolism. (wikipedia.org)
  • To detect disorders of hormone production that may affect baby's metabolism, response to infection, ability to regulate salt levels and sex characteristics. (kkh.com.sg)
Mutation2
  • This condition is clinically similar to Baraitser-Winter syndrome 2 ( 614583 ) which is a unique entity caused by a mutation in ACTG1 . (arizona.edu)
  • In our generated mouse model recapitulating human ADTKD-UMOD carrying a leading UMOD mutation, we show that autophagy/mitophagy and mitochondrial biogenesis are impaired, leading to cGAS-STING activation and tubular injury. (bvsalud.org)
Spectrum Disorder2
  • Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior. (nih.gov)
  • A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder. (stanford.edu)
Autosomal dominant2
  • Heterozygous mutations in the ACTB gene (7p22.1) are responsible for this apparent autosomal dominant syndrome. (arizona.edu)
  • Reis-Bucklers corneal dystrophy (CDRB) is an autosomal dominant disorder of the superficial corneal stroma that manifests as recurrent corneal erosions in early childhood. (nih.gov)
Mitochondrial2
  • Although decreased citrulline is used as a newborn screening (NBS) marker to identify proximal urea cycle disorders (UCDs), it is also a feature of some mitochondrial diseases, including MT-ATP6 mitochondrial disease. (stanford.edu)
  • Moreover, we demonstrate that inducible tubular overexpression of mesencephalic astrocyte-derived neurotrophic factor (MANF), a secreted endoplasmic reticulum protein, after the onset of disease stimulates autophagy/mitophagy, clears mutant UMOD, and promotes mitochondrial biogenesis through p-AMPK enhancement, thus protecting kidney function in our ADTKD mouse model. (bvsalud.org)
Genomics1
PBDs1
  • Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy. (wikipedia.org)
Abnormalities3
  • Accordingly, peroxisomal disorders may result in abnormalities of myelination . (epilepsygenetics.net)
  • Migrational abnormalities are the most likely causes of the severe seizures and psychomotor retardation associated with many types of peroxisomal disorders. (medscape.com)
  • Skeletal dysplasias, also known as osteochondrodysplasias, are a heterogeneous group of heritable disorders characterized by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton and disproportion of the long bones, spine, and head. (medscape.com)
Myelin1
  • Although this disorder affects the growth and/or development of myelin, leukodystrophies are different from demyelinating disorders such as multiple sclerosis where myelin is formed normally but is lost by immunologic dysfunction or for other reasons. (findmeacure.com)
Homozygous1
  • Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. (medscape.com)
Muscular hypotonia1
Molecular1
  • The molecular basis for a large majority of these disorders in now known. (medscape.com)
Proteins1
Genetically heterogeneous1
  • The disorder is clinically and genetically heterogeneous. (nih.gov)
Metabolic1
Disease2
  • The initial description of the peroxisome (originally termed the microbody) appeared in 1954 in a doctoral thesis about mouse kidneys, almost 10 years after the first case description of peroxisomal disease was published. (medscape.com)
  • ALD is a disease in a group of genetic disorders called leukodystrophies. (findmeacure.com)
Dysplasia1
  • Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). (medscape.com)
Short rib-poly1
  • SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). (beds.ac.uk)
Phenotypes1
  • GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. (nih.gov)
Adrenoleukodystrophy1
  • Adrenoleukodystrophy (ALD), is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. (findmeacure.com)
Guidelines1
  • Therefore, most guidelines suggest screening for neurometabolic disorders in patients with new-onset epileptic encephalopathy. (epilepsygenetics.net)
Patients2
  • Evaluating and monitoring patients with fatty acid oxidation and organic acid disorders. (kkh.com.sg)
  • In the large exome-sequencing studies published to date, none of the patients analyzed had a neurometabolic disorder. (epilepsygenetics.net)
Genetic1
  • More broadly, our results suggest that specific genetic disorders may cause distinct forms of cortical dysgenesis. (biomedcentral.com)
Congenital1
  • Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. (beds.ac.uk)
Bone1
  • Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. (nih.gov)
Recurrent1
  • Although most newborns with these disorders look healthy at birth, they may be at risk of having serious health problems later in life such as learning difficulties, recurrent sicknesses and even death if their disorder is not detected and treated early. (kkh.com.sg)
Include1
  • Peroxisomal disorders also include: Wanders, R. J. A. (wikipedia.org)
Defects2
  • Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. (wikipedia.org)
  • One of the most challenging aspects in pathogenesis of these disorders is the mechanism responsible for neuronal migration defects. (medscape.com)
Medical1
Year1
  • This peroxisomal disorder presents in the first year of life with both systemic and ocular features. (arizona.edu)
Type2
Normal1
  • Normal stature and normal head size distinguishes Phelan-McDermid syndrome from other autosomal chromosome disorders. (nih.gov)
Features1
  • Hypotrichosis-lymphedema-telangiectasia syndrome is an autosomal recessive disorder characterized by these 3 features, which begin at birth or in early childhood and are progressive (summary by Irrthum et al. (nih.gov)
Child1
Specific1