About: Carnitine Palmitoyltransferase I Deficiency

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About: Carnitine Palmitoyltransferase I Deficiency Goto Sponge NotDistinct Permalink

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	Carnitine Palmitoyltransferase I Deficiency
rdfs:subClassOf	Rare Non-Neoplastic Disorder Lipid Metabolism Disorders
Has_NICHD_Parent	Enzyme Deficiency
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
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
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0563111

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