MALEYLACETOACETATE ISOMERASE

Question 1

What is  MALEYLACETOACETATE ISOMERASE?

Accepted Answer

rare
autosomal recessive
mutation of the GSTZ1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Maleylacetoacetat-Isomerase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 617596

Question 4

Which enzymes are involved?

Accepted Answer

Maleylacetoacetate isomerase

Disease	MALEYLACETOACETATE ISOMERASE
Synonym	MAAI DEFICIENCY HYPERSUCCINYLACETONEMIA, MILD; MHSA
OMIM	617596 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Maleylacetoacetate isomerase
ExPASy	2.5.1.18, 5.2.1.2.
Gene locus	14q24.3
ICD
Summary	rare autosomal recessive mutation of the GSTZ1 gene
Laboratory findings	Succinylacetone inc (urine) L-Pyroglutamic acid (5-Oxoproline) normal/inc (urine) Succinylacetone inc (plasma)
Symptoms	no clinical symptoms (probably) onset, childhood onset, infancy onset, neonatal