About: Glutaric Acidemia Type 1

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Glutaric Acidemia Type 1
rdfs:subClassOf	Rare Non-Neoplastic Disorder Amino Acid Metabolism, Inborn Errors
Has_NICHD_Parent	Amino Acid Metabolism, Inborn Errors
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Glutaric Acidemia Type 1
UMLS_CUI	C0268595
Contributing_Source	NICHD
FULL_SYN	Glutaric Acidemia Type 1PTNCI Glutaric Aciduria, Type 1PTNICHD
DEFINITION	A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and urinary excretion of glutaric acid. Patients present with brain atrophy, microcephaly, and acute dystonia.NCI
code	C99101

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