Acetyl-coa acetyltransferase-2 deficiency

Preferred Label : Acetyl-coa acetyltransferase-2 deficiency;

Symbol : ACAT2D;

CISMeF acronym : ACAT2D;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Acat2 deficiency;

Inheritance : Isolated cases;

Laboratory abnormalities : Increased urinary ketones; Increased serum lactate; Increased serum pyruvate; Decreased activity of cytosolic acetoacetyl-CoA thiolase (ACAT2, 100678);

Prefixed ID : 614055;

Details

Origin ID

614055;

UMLS CUI

C0342735;

Currated CISMeF NLP mapping
- Cytosolic acetoacetyl-CoA thiolase deficiency [ICD-11 More detail]
- Cytosolic acetoacetyl-CoA thiolase deficiency [MeSH concept]
- Cytosolic acetoacetyl-coenzyme A thiolase deficiency (disorder) [SNOMED CT concept]
- cytosolic acetoacetyl-CoA thiolase deficiency [MeSH Supplementary Concept]
HPO term(s)
- Chorea [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Increased serum pyruvate [HPO term]
- Sporadic [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cytosolic acetoacetyl-CoA thiolase deficiency [MeSH concept]
- Cytosolic acetoacetyl-CoA thiolase deficiency [ICD-11 More detail]
- Cytosolic acetoacetyl-coenzyme A thiolase deficiency (disorder) [SNOMED CT concept]
- cytosolic acetoacetyl-CoA thiolase deficiency [MeSH Supplementary Concept]

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