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Summary
ACATALASEMIA
CATALASE ACATALASEMIA
614097
OMIM = Online Medalian Inheritance of Men
926
11p13
  • no specific treatment
rare (1:25000 - 1:250000, 5:106 in Hungary)
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 may contribute to the early development of arteriosclerosis and diabetes in these patients [Goth, L 2003]
symptoms
methemoglobinemia
no consistent clinical signs or symptoms
onset, childhood
oral infections, gangrene
laboratory finding
Catalase decreased activityerythrocytes
Literature
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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
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de Jong Jet al.Alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestation and difficult biochemical diagnosisJ Pediatr1250385-3911994
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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
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Treem WRCongenital sucrase-isomaltase deficiencyJ Pediatr Gastroenterol Nutr2101-141995
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Regier DS,et al.The GM1 and GM2 Gangliosidoses: Natural History and Progress toward TherapyPediatr Endocrinol Rev Suppl131663-6732016
Suchy SFNussbaum RLThe deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerizationAm J Hum Genet7161420-14272002