Holocarboxylase synthase deficiency

Introduction: Holocarboxylase synthase deficiency

Description of Holocarboxylase synthase deficiency

Holocarboxylase synthase deficiency: 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).
Source: Diseases Database

Holocarboxylase synthase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Holocarboxylase synthase deficiency:

• Synthase
• Deficiency

Terms associated with Holocarboxylase synthase deficiency:

Terms Similar to Holocarboxylase synthase deficiency:

• Multiple carboxylase deficiency - neonatal onset

Source: Diseases Database

External links related to: Holocarboxylase synthase deficiency

• OMIM - HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
• Holocarboxylase synthetase deficiency - Genetics Home Reference
• eMedicine - Holocarboxylase Synthetase Deficiency : Article by Karl S Roth, MD

Source: Diseases Database

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