About: Carnitine Palmitoyltransferase I Deficiency     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
rdf:type
rdfs:label
  • Carnitine Palmitoyltransferase I Deficiency
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Carnitine Palmitoyltransferase I Deficiency
UMLS_CUI
  • C0342789
Contributing_Source
  • NICHD
FULL_SYN
  • Carnitine Palmitoyltransferase I DeficiencyPTNCI
  • Carnitine Palmitoyltransferase I DeficiencyPTNICHD
DEFINITION
  • A rare autosomal recessive inherited disorder caused by mutations in the CPT1A gene. It is characterized by the presence of defective carnitine palmitoyltransferase 1A which is involved in fatty acid oxidation. Signs and symptoms may be exacerbated during fasting and include hypoketotic hypoglycemia, increased levels of carnitine in the blood, hepatomegaly, seizures, and coma.NCI
code
  • C98871
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