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carnitine-acylcarnitine translocase deficiency

^ http://purl.obolibrary.org/obo/MONDO_0008918

Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. [ Orphanet:159 ]

Term info

database cross reference
  • UMLS:C0342791 (Orphanet:159/e)
  • DOID:0111585 (MONDO:equivalentTo)
  • Orphanet:159 (OMIM:212138)
  • MESH:C562812 (MONDO:equivalentTo)
  • SCTID:238003000 (MONDO:equivalentTo)
  • NCIT:C133086 (MONDO:equivalentTo)
  • OMIM:212138 (Orphanet:159/e)
  • GARD:0001123 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
CACTD [ OMIM:212138 MONDO:Lexical ]

definition

Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.

exactMatch

https://omim.org/entry/212138, http://purl.obolibrary.org/obo/Orphanet_159, http://purl.obolibrary.org/obo/NCIT_C133086, http://linkedlifedata.com/resource/umls/id/C0342791, http://identifiers.org/mesh/C562812, http://purl.obolibrary.org/obo/DOID_0111585, http://identifiers.org/snomedct/238003000

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005045, http://purl.obolibrary.org/obo/MONDO_0005267

has exact synonym

carnitine-acylcarnitine translocase deficiency, CACT deficiency

has related synonym

CARNITINE-acylcarnitine translocase deficiency, CACTD, Cact deficiency

id

MONDO:0008918

seeAlso

https://rarediseases.info.nih.gov/diseases/1123/carnitine-acylcarnitine-translocase-deficiency