Maleylacetoacetate isomerase deficiency

Preferred Label : Maleylacetoacetate isomerase deficiency;

Symbol : MAAID;

CISMeF acronym : BHSA; MAAID; MHSA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Benign hypersuccinylacetonemia; Hypersuccinylacetonemia, mild; MHSA; BHSA; Maai deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutathione S-transferase, zeta-1 gene (GSTZ1, 603758.0001);

Laboratory abnormalities : Mildly elevated succinylacetone in blood and urine seen on newborn screening; Hypersuccinylacetonemia, benign;

Prefixed ID : #617596;

Details

Origin ID

617596;

UMLS CUI

C1291607;

Automatic exact mappings (from CISMeF team)
- Master of Health Services Administration [NCIt concept]
- murine acquired immunodeficiency syndrome [MeSH Descriptor]
CISMeF manual mappings
- Deficiency of maleylacetoacetate isomerase (disorder) [SNOMED CT concept]
Genes related to phenotype
- Glutathione s-transferase, zeta-1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
Not associated HPO term(s)
- Decreased liver function [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of maleylacetoacetate isomerase (disorder) [SNOMED CT concept]

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