ACATALASEMIA

Question 1

What is  ACATALASEMIA?

Accepted Answer

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]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Akatalasämie; Katalase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614097

Question 4

Which enzymes are involved?

Accepted Answer

catalase

Disease	ACATALASEMIA
Synonym	CATALASE; ACATALASEMIA
OMIM	614097 OMIM = Online Mendelian Inheritance of Men
Orphanet	926
Protein (UniProt)	catalase
ExPASy	1.11.1.6
Gene locus	11p13
ICD	E80.3
Summary	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]
Laboratory findings	Catalase dec (erythrocytes)
Symptoms	methemoglobinemia no clinical symptoms (probably) onset, childhood oral infections, ulcerations, gangrene