About: Mitochondrial Trifunctional Protein Deficiency     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Mitochondrial Trifunctional Protein Deficiency
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
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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