OMIM = Online Medalian Inheritance of Men
  • desferrioxamine
rare (1:2000000 Japan)
autosomal recessive
chorea or athetosis
clumsiness, coordination defect or unsteadiness
cognitive impairment
diabetes mellitus
liver involvement or dysfunction
onset, adulthood
retinal or macular degeneration
tremor or twitching
laboratory finding
Iron decreasedserum
Ceruloplasmin decreasedserum
Copper decreasedserum
Ceruloplasmin ferroxidase * decreased activity
MRI, brain, abnormalities -
Ferritin increasedserum
Noguchi Aet al.Stroke-like episode involving a cerebral artery in a patient with MELASPediatr Neurol33170-712005
Arrondel Cet al.A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French PolynesiaKidney Int6552030-20402004
Takechi Tet al.Identification of N-acetyl-alpha-aminoadipic acid in the urine of a patient with alpha-aminoadipic and alpha-ketoadipic aciduriaJ Inherit Metab Dis161119-1261993
Wilson Cox Dalpha1-Antitrypsin deficiencyThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.313841251995
Nakai Aet al.MRI findings of Zellweger syndromePediatr Neurol130346-3481995
Togawa T,et al.Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation SequencingJ Pediatr102016
Schwahn Bet al.Severe hyperhomocysteinaemia and 5-oxoprolinuria secondary to antiproliferative and antimicrobial drug treatmentJ Inherit Metab Dis28199-1022005
Stenqvist Let al.A Juvenile Case of MELAS with T3271C Mitochondrial DNA MutationPediatr Res002005
DOsualdo Aet al.MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent feverEur J Hum Genet133314-3202005
Kanzaki Tet al.Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusumLancet I008751989
Wang YFet al.Expression of the partial protein encoded by mutated COL4A5 gene and analysis of the structure by circular dichroismBeijing Da Xue Xue Bao362185-1892004
Matsui SMMahoney MJ, Rosenberg LEThe natural history of the inherited methylmalonic acidemiasN Engl J Med308018571983
Santamaria Fet al.Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methodsAm J Respir Crit Care Med1532731-7351996
Erlinger S,Arias IM, Dhumeaux DInherited disorders of bilirubin transport and conjugation: new insights into molecular mechanisms and consequencesGastroenterology114671625-16382014
Jakobs Cde Grauw AJA fatal case of 2-ket, 2-hydroxy and aminoaciduria: relation of organic aciduria to phenotype?J Inherit Metab Dis152279-2801992
Fily Aet al.Gluthathion synthetase deficit in a newborn infant.Arch Pediatr11111339-13412004
Hoang LByck S, Prevost L, Scriver CRPAH Mutation Analysis Consortium Database: a database for a disease-producing and other allelic variation at the human PAH locusNucleic Acids Res241127-1311996
Njalsson Ret al.Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiencyHum Genet002005
Wendel Uet al.On the differences between urinary metabolite excretion and odd-numbered fatty acid production in propionic and methylmalonic acidaemiasJ Inherit Metab Dis185584-5911995