About: 2-Methylbutyryl-CoA Dehydrogenase Deficiency

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

Attributes	Values
rdf:type	Class
rdfs:label	2-Methylbutyryl-CoA Dehydrogenase Deficiency
rdfs:subClassOf	Amino Acid Metabolism, Inborn Errors
Has_NICHD_Parent	Enzyme Deficiency
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	2-Methylbutyryl-CoA Dehydrogenase Deficiency
UMLS_CUI	C1864912
Contributing_Source	NICHD
FULL_SYN	2-Methylbutyryl-CoA Dehydrogenase DeficiencyPTNCI Butyryl-CoA Dehydrogenase DeficiencyPTNICHD
DEFINITION	A rare autosomal recessive inherited disorder caused by mutations in the ACADSB gene. It is characterized by deficiency of the enzyme 2-methylbutyryl-CoA dehydrogenase which is involved in the metabolism of isoleucine. Signs and symptoms include vomiting, lethargy, irritable mood, and developmental delays. It may also lead to breathing difficulties, seizures, and coma.NCI
code	C98863
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0566787

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