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Holocarboxylase Synthetase 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).
Also Known As:
Deficiency, Holocarboxylase Synthetase; Deficiency, Multiple Carboxylase, Neonatal Form; Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency; Early-Onset Combined Carboxylase Deficiency; HLCS Deficiency; Infantile Multiple Carboxylase Deficiency; Multiple Carboxylase Deficiency, Early Onset; Deficiencies, HLCS; Deficiencies, Holocarboxylase Synthetase; Deficiency, HLCS; Early Onset Biotin Responsive Multiple Carboxylase Deficiency; Early Onset Combined Carboxylase Deficiency; HLCS Deficiencies; Holocarboxylase Synthetase Deficiencies; Carboxylase Deficiency, Multiple, Neonatal Form; Multiple Carboxylase Deficiency, Neonatal Form
Networked: 59 relevant articles (1 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Biotin deficiency
2. Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)
3. Multiple Carboxylase Deficiency (Deficiency, Multiple Carboxylase)
4. Ketosis
5. Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Experts

1. Bailey, Lisa M: 3 articles (01/2012 - 06/2008)
2. Polyak, Steven W: 3 articles (01/2012 - 06/2008)
3. Wallace, John C: 3 articles (01/2012 - 06/2008)
4. Barshop, Bruce A: 2 articles (01/2017 - 12/2008)
5. Hui, Joannie: 2 articles (08/2012 - 03/2003)
6. Booker, Grant W: 2 articles (01/2012 - 07/2008)
7. Wilson, Callum J: 2 articles (06/2008 - 07/2005)
8. Christensen, E: 2 articles (06/2007 - 11/2001)
9. Aoki, Y: 2 articles (07/2003 - 11/2001)
10. Suzuki, Y: 2 articles (07/2003 - 11/2001)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Holocarboxylase Synthetase Deficiency:
1. Biotin (Vitamin H)FDA Link
2. Carnitine (L-Carnitine)FDA LinkGeneric
3. Ligases (Synthetase)IBA
4. EnzymesIBA
5. BiotinidaseIBA
6. Fatty Acids (Saturated Fatty Acids)IBA
7. VitaminsIBA
8. Thiamine (Aneurin)FDA Link
9. Proteins (Proteins, Gene)FDA Link
10. Glucose (Dextrose)FDA LinkGeneric

Therapies and Procedures

1. Therapeutics