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carnitine palmitoyl transferase II deficiency, severe infantile form

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.
Uniprot Description An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy.
Mondo Term and Equivalent IDs
MONDO:0010914:  carnitine palmitoyl transferase II deficiency, severe infantile form
MESH:C563462: 
Orphanet:228305: 
UMLS:C1833511: