Holocarboxylase Synthetase Deficiency

Synonyms

Carboxylase Deficiency, Multiple, Neonatal Form

Deficiencies, HLCS

Deficiencies, Holocarboxylase Synthetase

Deficiency, HLCS

Deficiency, Holocarboxylase Synthetase

Deficiency, Multiple Carboxylase, Neonatal Form

Early Onset Biotin Responsive Multiple Carboxylase Deficiency

Early Onset Combined Carboxylase Deficiency

Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency

Early-Onset Combined Carboxylase Deficiency

HLCS Deficiencies

HLCS Deficiency

Holocarboxylase Synthetase Deficiencies

Infantile Multiple Carboxylase Deficiency

Multiple Carboxylase Deficiency, Early Onset

Multiple Carboxylase Deficiency, Neonatal Form

The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase).

See Also
Biotin