About: Mitochondrial Trifunctional Protein Deficiency

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About: Mitochondrial Trifunctional Protein Deficiency Goto Sponge NotDistinct Permalink

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

Attributes	Values
rdf:type	Class
rdfs:label	Mitochondrial Trifunctional Protein Deficiency
rdfs:subClassOf	Rare Non-Neoplastic Disorder Lipid Metabolism Disorders
Has_NICHD_Parent	Genetic Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Mitochondrial Trifunctional Protein Deficiency
UMLS_CUI	C0342786
Contributing_Source	NICHD
FULL_SYN	Mitochondrial Trifunctional Protein DeficiencyPTNCI Mitochondrial Trifunctional Protein DeficiencyPTNICHD
DEFINITION	A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symptoms may appear early or later in life and may be triggered by periods of fasting or illnesses. They include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver abnormalities, heart abnormalities, peripheral neuropathy, coma, and sudden death.NCI
code	C98991

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