Svensk definition
Multipel karboxilasbrist hos nyfödda, orsakad av defekt i eller brist på holokarboxilassyntetas. HLCS är det enzym som medelst kovalent bindning kopplar biotin till de biotinberoende karboxilaserna (propionyl-CoA-karboxilas, pyruvatkarboxilas och betametylkrotonyl-CoA-karboxilas).
Engelsk definition
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).
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Deficiencies, Holocarboxylase Synthetase — Holocarboxylase Synthetase Deficiencies — Deficiency, Holocarboxylase Synthetase — Deficiency, Multiple Carboxylase, Neonatal Form — HLCS Deficiency — Deficiencies, HLCS — Deficiency, HLCS — HLCS Deficiencies — Multiple Carboxylase Deficiency, Neonatal Form — Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency — Early Onset Biotin Responsive Multiple Carboxylase Deficiency — Early-Onset Combined Carboxylase Deficiency — Early Onset Combined Carboxylase Deficiency — Infantile Multiple Carboxylase Deficiency — Carboxylase Deficiency, Multiple, Neonatal Form — Multiple Carboxylase Deficiency, Early Onset