Disease_Mapped_To_Gene
Cellosaurus Disease Terminology
HLCS Gene
Cellosaurus Terminology
Congenital Metabolic Disorder
Rare Non-Neoplastic Disorder
NICHD Terminology
Holocarboxylase Synthetase Deficiency
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.
C0268581
C98842
Cellosaurus
Disease or Syndrome
Holocarboxylase Synthetase Deficiency
Holocarboxylase Synthetase Deficiency
Multiple Carboxylase Deficiency
NICHD
Neonatal Multiple Carboxylase Deficiency
Neonatal Research Network Terminology