3-methylcrotonyl-coa carboxylase 1 deficiency

Preferred Label : 3-methylcrotonyl-coa carboxylase 1 deficiency;

Symbol : MCC1D;

CISMeF acronym : MCC1D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mccd type 1; Methylcrotonylglycinuria type I; 3-methylcrotonylglycinuria I; Mcc1 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha subunit of the 3-methylcrotonyl-CoA carboxylase gene (MCCC1, 609010.0001);

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

Prefixed ID : #210200;

Details

Origin ID

210200;

UMLS CUI

C0268600;

Broader ORDO disease(s)
- 3-methylcrotonyl-CoA carboxylase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- 3 alpha methylcrotonylglycinuria 1 [Disease (Nov.)]
- 3-Methylcrotonyl-CoA carboxylase deficiency [DO Concept]
- 3-methylcrotonyl CoA carboxylase 1 deficiency [MeSH concept]
- 3-methylcrotonyl CoA carboxylase 1 deficiency [MeSH Supplementary Concept]
- 3-methylcrotonyl-CoA carboxylase deficiency [ORDO Disease]
- 3-methylcrotonylglycinuria [ICD-11 More detail]
- Methylcrotonyl-CoA Carboxylase Deficiency [NCIt concept]
- Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) [SNOMED CT concept]
- methylcrotonyl-coa carboxylase deficiency [SNOMED Notion]
DO Cross reference
- 3-Methylcrotonyl-CoA carboxylase 1 deficiency [DO Concept]
Genes related to phenotype
- 3-methylcrotonyl-coa carboxylase 1 [OMIM gene]
HPO term(s)
- Acute hepatic steatosis [HPO term]
- Acute hyperammonemia [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coma [HPO term]
- Episodic metabolic acidosis [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Heterogeneous [HPO term]
- Hyperreflexia [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Ketonuria [HPO term]
- Lethargy [HPO term]
- Opisthotonus [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [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-methylcrotonyl CoA carboxylase 1 deficiency [MeSH Supplementary Concept]
- 3-methylcrotonyl CoA carboxylase 1 deficiency [MeSH concept]
- 3-methylcrotonyl-CoA carboxylase deficiency [ORDO Disease]
- Deficiency of methylcrotonoyl-CoA carboxylase (disorder) [Inactive SNOMED CT concept]
- methylcrotonyl-coa carboxylase deficiency [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients