About: Neonatal Holocarboxylase Synthetase Deficiency     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Neonatal Holocarboxylase Synthetase Deficiency
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Neonatal Holocarboxylase Synthetase Deficiency
NCI_META_CUI
  • CL433068
FULL_SYN
  • Neonatal Holocarboxylase Synthetase DeficiencyPTNCI
  • Neonatal Multiple Carboxylase DeficiencySYNCI
DEFINITION
  • A rare autosomal recessive inherited disorder that is manifested in the neonatal period and is caused by mutations in the HLCS gene. It is characterized by deficiency of the enzyme holocarboxylase synthetase which facilitates the effective use of the vitamin biotin in the body. Signs and symptoms include difficulties in feeding and breathing, skin rash, seizures, lethargy, and coma.NCI
code
  • C99247
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