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Multiple Carboxylase Deficiency (Deficiency, Multiple Carboxylase)

A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.
Also Known As:
Deficiency, Multiple Carboxylase; Carboxylase Deficiency, Combined; Deficiency, Combined Carboxylase; Carboxylase Deficiencies, Combined; Carboxylase Deficiencies, Multiple; Combined Carboxylase Deficiencies; Deficiencies, Combined Carboxylase; Deficiencies, Multiple Carboxylase; Multiple Carboxylase Deficiencies; Carboxylase Deficiency, Multiple; Combined Carboxylase Deficiency
Networked: 117 relevant articles (1 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Methylmalonic acidemia
2. Propionic Acidemia
3. Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)
4. Multiple Acyl Coenzyme A Dehydrogenase Deficiency
5. Holocarboxylase Synthetase Deficiency

Experts

1. Gravel, Roy A: 4 articles (12/2008 - 01/2004)
2. Hui, Joannie: 3 articles (08/2014 - 03/2003)
3. Gao, X L: 2 articles (06/2022 - 08/2007)
4. Gu, X F: 2 articles (06/2022 - 08/2007)
5. Han, L S: 2 articles (06/2022 - 08/2007)
6. Qiu, W J: 2 articles (06/2022 - 08/2007)
7. Jafri, Lena: 2 articles (06/2022 - 04/2017)
8. Khan, Aysha Habib: 2 articles (06/2022 - 04/2017)
9. Balasubramaniam, Shanti: 2 articles (01/2019 - 01/2017)
10. Cheung, K L: 2 articles (08/2014 - 03/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Multiple Carboxylase Deficiency:
1. Biotin (Vitamin H)FDA Link
2. VitaminsIBA
3. EnzymesIBA
4. AcidsIBA
5. Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
6. Transcobalamins (Transcobalamin II)IBA
7. Ligases (Synthetase)IBA
8. BiotinidaseIBA
9. Fatty Acids (Saturated Fatty Acids)IBA
10. Pyruvate CarboxylaseIBA

Therapies and Procedures

1. Drug Therapy (Chemotherapy)