116020001: Disorder of branched-chain amino acid metabolism (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of branched-chain amino acid metabolism	Is a	Disorder of amino acid metabolism	false	Inferred relationship	Some
Disorder of branched-chain amino acid metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of branched-chain amino acid metabolism	Occurrence	Congenital	false	Inferred relationship	Some
Disorder of branched-chain amino acid metabolism	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
3-Methylglutaconic aciduria	Is a	True	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
3-Hydroxyisobutyric aciduria	Is a	False	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
beta-hydroxyisobutyryl-CoA-deacylasemangel	Is a	False	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Deficiency of acetyl-CoA acetyltransferase	Is a	True	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
An inherited disorder of leucine metabolism with characteristics of a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Patients have a variable clinical phenotype with the vast majority of patients being asymptomatic and a small subgroup displaying symptoms of an organic aciduria, usually in association with environmental triggering factors. This disease is due to mutations in the MCCC1 (3q27.1) or MCCC2 (5q12-q13) genes. Mutations in these genes lead to reduced or absent 3-MCC activity, thereby allowing the toxic byproducts of leucine processing to build up and cause clinical symptoms. Inherited autosomal recessively.	Is a	True	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Propionyl-CoA carboxylase deficiency	Is a	False	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Holocarboxylase synthase deficiency	Is a	False	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Hyperleucinemia	Is a	True	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Maple syrup urine disease	Is a	True	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Methylmalonic acidemia	Is a	True	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Hypervalinemia	Is a	False	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Intermittent branched-chain ketonuria	Is a	True	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Hyperleucine-isoleucinemia	Is a	True	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Hydroxymethylglutaryl-CoA lyase deficiency	Is a	False	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Isovaleryl-CoA dehydrogenase deficiency	Is a	True	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Biotinidase deficiency	Is a	False	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
ahornsirup-urin-sygdom	Is a	False	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Isoleucinosis	Is a	False	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Valinosis	Is a	False	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Other specified disturbance of branched chain amino acid metabolism	Is a	False	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Propionic acidemia	Is a	True	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Hydroxymetylglutaryl-CoA-lyasemangel	Is a	False	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Disorder of isoleucine metabolism (disorder)	Is a	True	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
Disorder of valine metabolism (disorder)	Is a	True	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.	Is a	True	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11.	Is a	True	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some
A rare genetic inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype. Typical characteristics are mild to severe global developmental delay, elevated methylmalonic acid and occasionally lactic acid plasma levels and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (for example beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure and central nervous system abnormalities on MRI have also been reported. Caused by homozygous or compound heterozygous mutation in the ALDH6A1 gene on chromosome 14q24.	Is a	True	Disorder of branched-chain amino acid metabolism	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
178638013	Disorder of branched-chain amino acid metabolism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
674172017	Disorder of branched-chain amino acid metabolism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1220252012	Disorder of branched chain amino acid metabolism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3036695018	Branched chain amino acid metabolism disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4328511000005119	stofskifteforstyrrelse med forgrenet aminosyre-ophobning	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)