3-methylcrotonyl-coa carboxylase 2 deficiency

Preferred Label : 3-methylcrotonyl-coa carboxylase 2 deficiency;

Symbol : MCC2D;

CISMeF acronym : MCC2D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 3-methylcrotonylglycinuria II; Mcc2 deficiency; Methylcrotonylglycinuria, type II;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta subunit of the 3-methylcrotonyl-CoA carboxylase gene (MCCC2, 609014.0001);

Laboratory abnormalities : Urinary excretion of 3-hydroxyisovaleric acid, chronic; Urinary excretion of 3-methylcrotonylglycine, chronic; Decreased activity of 3-methylcrotonyl-CoA carboxylase (less than 2%); Hyperammonemia, acute; Ketonuria, acute; Secondary decrease of plasma free carnitine;

Prefixed ID : #210210;

Details

Origin ID

210210;

UMLS CUI

C1859499;

Automatic exact mappings (from CISMeF team)
- 3-methylcrotonyl CoA carboxylase 2 deficiency [MeSH concept]
- 3-methylcrotonyl CoA carboxylase 2 deficiency [MeSH Supplementary Concept]
Broader ORDO disease(s)
- 3-methylcrotonyl-CoA carboxylase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- 3 alpha methylcrotonylglycinuria 2 [Disease (Nov.)]
DO Cross reference
- 3-Methylcrotonyl-CoA carboxylase 2 deficiency [DO Concept]
Genes related to phenotype
- 3-methylcrotonyl-coa carboxylase 2 [OMIM gene]
HPO term(s)
- Acute hyperammonemia [HPO term]
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coma [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Heterogeneous [HPO term]
- Hyperglycinuria [HPO term]
- Hyperreflexia [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Ketoacidosis [HPO term]
- Ketonuria [HPO term]
- Lethargy [HPO term]
- Metabolic acidosis [HPO term]
- Opisthotonus [HPO term]
- Organic aciduria [HPO term]
- Propionyl-CoA carboxylase deficiency [HPO term]
- Psychomotor retardation [HPO term]
- Seborrheic dermatitis [HPO term]
- Seizure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- 3-methylcrotonyl-CoA carboxylase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3 alpha methylcrotonylglycinuria 2 [Disease (Nov.)]
- 3-methylcrotonyl CoA carboxylase 2 deficiency [MeSH Supplementary Concept]
- 3-methylcrotonyl CoA carboxylase 2 deficiency [MeSH concept]

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