Visit Metagene.de!
Summary
ACATALASEMIA
CATALASE ACATALASEMIA
614097
OMIM = Online Medalian Inheritance of Men
926
11p13
  • no specific treatment
rare (1:25000 - 250000)
autosomal recessive?
mutation in the CAT gene
type I japanese variant of low specific activity
type II swiss variant of low stability relatively benign disease (increased risk of diabetes?) ... may contribute to the early development of arteriosclerosis and diabetes in these patients [Goth, L 2003]
symptoms
methemoglobinemia
no clinical signs or symptoms
oral infections, gangrene
laboratory finding
Catalase decreased activityerythrocytes
Literature
Choudhury Ret al.Lowe Syndrome Protein OCRL1 Interacts with Clathrin and Regulates Protein Trafficking between Endosomes and the Trans-Golgi NetworkMol Biol Cell1683467-34792005
Ten Brink HJvan den Heuvel CMM, Poll-The BT, Wanders RJA, Jacobs CPeroxysomal Disorders: Concentrations of metabolites in cerebrospinal fluid compared wth plasmaJ Inherit Metab Dis160587-5891993
Ten Brink HJvan den Heuvel CMM, Poll-The BT, Wanders RJA, Jacobs CPeroxysomal Disorders: Concentrations of metabolites in cerebrospinal fluid compared wth plasmaJ Inherit Metab Dis160587-5891993
Monagle PTTauro GPLong term follow up of patients with transcobalamin II deficiencyArch Dis Child720237-2381995
van Diggelen OPSchindler D et al.Lysosomal alpha-N-acetylgalctosaminidase deficiency: a new inherited metabolic diseaseLancet II008041987
de Jong Jet al.Alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestation and difficult biochemical diagnosisJ Pediatr1250385-3911994
Desnick RJWang AMalpha-N-Acetylgalactosaminidase deficiency: Schindler diseaseThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202509-25281995
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
Mayatepek Eet al.A severely affected infant with absence of cysteinyl leukotrienes in cerebrospinal fluid: further evidence that leukotriene C4-synthesis deficiency is a new neurometabolic disorderNeuropediatrics3015-71999
Moser ABet al.Plasma very long chain fatty acids in 3000 peroxisome disease patients and 29000 controlsAnn Neurol451100-1101999
Ten Brink HJvan den Heuvel CMM, Poll-The BT, Wanders RJA, Jacobs CPeroxysomal Disorders: Concentrations of metabolites in cerebrospinal fluid compared wth plasmaJ Inherit Metab Dis160587-5891993
Sargent CAet al.The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposonsHum Mol Genet381317-13241994
Yapicioglu Het al.A newborn infant with generalized glutathione synthetase deficiencyTurk J Pediatr46172-752004
Rzem Ret al.A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduriaProc Natl Acad Sci U S A1014816849-542004
Moser HWAdrenoleukodystrophy: natural history, treatment and outcomeJ Inherit Metab Dis180435-4471995
Desnick RJWang AMalpha-N-Acetylgalactosaminidase deficiency: Schindler diseaseThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202509-25281995
Treem WRCongenital sucrase-isomaltase deficiencyJ Pediatr Gastroenterol Nutr2101-141995
Goldfischer SCollins J, Rapin I, Neumann P, Neglia W, Spiro AJ, Ishii T, Roels F, Vamecq J, van Hoof FPseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activitiesJ Pediatr108025-321986
Suchy SFNussbaum RLThe deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerizationAm J Hum Genet7161420-14272002