General Information
Term	3-methylcrotonyl-CoA carboxylase deficiency	ID (Ontology)	DOID:0050710 (Human Disease)
Definition	An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.
Also Known As	"3-Methylcrotonylglycinuria" ; "3MCC deficiency" ; "BMCC deficiency"
Comment
Links to External Ontologies
	DO.org
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Records annotated with this term OR any of its CHILD TERMS
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General Information

Term

3-methylcrotonyl-CoA carboxylase deficiency

ID (Ontology)

DOID:0050710 (Human Disease)

Definition

An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.

Also Known As

"3-Methylcrotonylglycinuria" ; "3MCC deficiency" ; "BMCC deficiency"

Comment

Links to External Ontologies

DO.org

Annotations

Records annotated with this term OR any of its CHILD TERMS

Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records

No relevant statements available

autosomal genetic disease
 |__autosomal recessive disease____
musculoskeletal system disease     |
 |__muscular disease_______________|
inherited metabolic disorder       |
 |__amino acid metabolic disorder__|
                                   3-methylcrotonyl-CoA carboxylase deficiency  3 rec.
                                    |__3-methylcrotonyl-CoA carboxylase 1 deficiency 1 rec.
                                    |__3-methylcrotonyl-CoA carboxylase 2 deficiency 2 rec.

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Is a	autosomal recessive disease muscular disease amino acid metabolic disorder
Part of
Synonyms & Secondary IDs
Synonyms
	"3-Methylcrotonylglycinuria" EXACT "3MCC deficiency" EXACT "BMCC deficiency" EXACT
Secondary IDs

External Crossreferences & Linkouts
	GARD:10954 MIM:PS210200 ORDO:6

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Parents/Children
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Relationships

Is a

autosomal recessive disease
muscular disease
amino acid metabolic disorder

Part of

Synonyms & Secondary IDs

Synonyms

"3-Methylcrotonylglycinuria" EXACT
"3MCC deficiency" EXACT
"BMCC deficiency" EXACT

Secondary IDs

External Crossreferences & Linkouts

GARD:10954
MIM:PS210200
ORDO:6