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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; Deficiencies, Holocarboxylase Synthetase; Holocarboxylase Synthetase Deficiencies; Carboxylase Deficiency, Multiple, Neonatal Form; Multiple Carboxylase Deficiency, Neonatal Form
Networked: 34 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)
2. Multiple Acyl Coenzyme A Dehydrogenase Deficiency
3. Multiple Carboxylase Deficiency (Deficiency, Multiple Carboxylase)
4. Maple Syrup Urine Disease
5. Homocystinuria

Experts

1. Hui, Joannie: 2 articles (08/2012 - 03/2003)
2. Booker, Grant W: 2 articles (01/2012 - 07/2008)
3. Bailey, Lisa M: 2 articles (01/2012 - 07/2008)
4. Wallace, John C: 2 articles (01/2012 - 07/2008)
5. Polyak, Steven W: 2 articles (01/2012 - 07/2008)
6. Christensen, E: 2 articles (06/2007 - 11/2001)
7. Yang, X: 2 articles (07/2003 - 11/2001)
8. Aoki, Y: 2 articles (07/2003 - 11/2001)
9. Suzuki, Y: 2 articles (07/2003 - 11/2001)
10. Dalmau, J: 1 article (03/2014)

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. Late-onset multiple carboxylase deficiencyIBA
4. LigasesIBA
5. BiotinidaseIBA
6. VitaminsIBA
7. Coenzyme A (CoA)IBA
8. Mutant Proteins (Protein, Mutant)IBA
9. Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA
10. Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric