Holocarboxylase synthetase deficiency


An inherited disorder where the enzymes that use the vitamin biotin are defective.


* Rapid breathing * Breathing difficulty * Hypothermia * Feeding difficulty * Hypotonia * Tremor * Seizure if untreated * Lethargy * Impaired ability to control voluntary movements * Coma if untreated * Developmental delay if untreated * Odorous urine * Ketolactic acidosis * Excess organic acids in urine * Elevated blood ammonia level * Low blood platelet level


Mutations in the HLCS gene cause holocarboxylase synthetase deficiency.


signs and symptoms of Holocarboxylase synthetase deficiency may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Holocarboxylase synthetase deficiency symptoms.