About: Holocarboxylase Synthetase 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
  • Holocarboxylase Synthetase Deficiency
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Holocarboxylase Synthetase Deficiency
UMLS_CUI
  • C0268581
Contributing_Source
  • NICHD
FULL_SYN
  • Neonatal Multiple Carboxylase DeficiencySYNICHD
  • Holocarboxylase Synthetase DeficiencyPTNCI
  • Holocarboxylase Synthetase DeficiencyPTNICHD
  • Multiple Carboxylase DeficiencySYNCI
DEFINITION
  • A rare autosomal recessive inherited disorder 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 appear early in life and include breathing difficulties, feeding difficulties, alopecia, skin rash, and lethargy. Lifelong administration of biotin supplements is required. If it is not treated properly, it may lead to developmental delays, seizures, and coma.NCI
code
  • C98842
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