Acatalasemia

Disease ID:1249
Name:Acatalasemia
Associated with:1 target
Synonyms
acatalasia | catalase deficiency | Takahara disease
Description
A rare autosomal recessive peroxisomal disorder caused by deficient activity of the enzyme, catalase, that was originally identified in patients suffering from ulcerating oral gangrene. different A number of CAT gene mutations that generate enzymes with varying degress of enzymatic deficiency have been identified. Heterozygotes have an intermediate level of catalase in the blood.
Database Links
OMIM: 614097
Orphanet: ORPHA926

Targets

catalase
Role:  Patients with acatalasemia are unable to breakdown hydrogen peroxide, leaving their tissues at risk of oxidative damage. Patients may be asymptomatic, but symptoms can include progressive oral gangrene. Acatalasemia is associated with diabetes mellitus and atherosclerosis in some defined populations.
Comments:  Genetic heterogeneity is found in patients with acatalasemia.
References:  1-5

Ligands

No ligand related data available for Acatalasemia

References

Show »

1. Góth L, Eaton JW. (2000) Hereditary catalase deficiencies and increased risk of diabetes. Lancet, 356 (9244): 1820-1. [PMID:11117918]

2. Góth L, Shemirani A, Kalmár T. (2000) Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. Blood Cells Mol. Dis., 26 (2): 151-4. [PMID:11001624]

3. HAMILTON HB, NEEL JV. (1963) GENETIC HETEROGENEITY IN HUMAN ACATALASIA. Am. J. Hum. Genet., 15: 408-19. [PMID:14097235]

4. Hirono A, Sasaya-Hamada F, Kanno H, Fujii H, Yoshida T, Miwa S. (1995) A novel human catalase mutation (358 T-->del) causing Japanese-type acatalasemia. Blood Cells Mol. Dis., 21 (3): 232-4. [PMID:8673475]

5. Wen JK, Osumi T, Hashimoto T, Ogata M. (1990) Molecular analysis of human acatalasemia. Identification of a splicing mutation. J. Mol. Biol., 211 (2): 383-93. [PMID:2308162]