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: 100 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

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


1. Gravel, Roy A: 4 articles (12/2008 - 01/2004)
2. Hui, Joannie: 3 articles (08/2014 - 03/2003)
3. Wasant, Pornswan: 2 articles (01/2015 - 06/2008)
4. Vatanavicharn, Nithiwat: 2 articles (01/2015 - 06/2008)
5. Kuptanon, Chulaluck: 2 articles (01/2015 - 06/2008)
6. Cheung, K L: 2 articles (08/2014 - 03/2003)
7. Law, L K: 2 articles (08/2014 - 03/2003)
8. Fok, T F: 2 articles (08/2014 - 03/2003)
9. Fung, Simon L M: 2 articles (08/2014 - 03/2003)
10. Tang, Nelson L S: 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. LigasesIBA
4. BiotinidaseIBA
5. Methylmalonic acidemiaIBA
01/01/2005 - "Methylmalonic acidemia (MMA) was most common (74 cases), followed by propionic acidemia (23 cases), ornitine transcarbamylase deficiency (22 cases), and multiple carboxylase deficiency (15 cases). "
06/01/2008 - "We identified the following disorders: alkaptonuria (ALK)=1, isovaleric acidemia (IVA)=3, propionic acidemia (PA)=2, methylmalonic acidemia (MMA)=3, glutaric aciduria, type I (GA-I)=1, multiple carboxylase deficiency (MCD)=1, and glutaric acidemia, type II (GA-II)=1. OA disorders had never been diagnosed in Thailand before, until GC/MS technology was introduced to Thailand in 2001. "
01/01/2015 - "The comparisons were between 1) an expanded neonatal screening programme using MS/MS screening for six prioritised diseases: phenylketonuria (PKU); isovaleric acidemia (IVA); methylmalonic acidemia (MMA); propionic acidemia (PA); maple syrup urine disease (MSUD); and multiple carboxylase deficiency (MCD); and 2) the current practice that is existing PKU screening. "
01/01/1999 - "Inherited metabolic disorders identified were as follows: medium-chain acyl CoA dehydrogenase deficiency (MCAD), multiple carboxylase deficiency (MCD), methylmalonic acidemia (MMA), Fanconi syndrome, galactosemia and neuroblastoma."
04/15/2010 - "GC/MS is widely used for the analysis of urinary organic acids for the chemical diagnosis of organic acidurias such as methylmalonic acidemia, propionic acidemia, isovaleric acidemia, glutaric aciduria type I, and multiple carboxylase deficiency. "
6. Pyruvate CarboxylaseIBA
7. Methylmalonyl-CoA Decarboxylase (Propionyl CoA Carboxylase)IBA
8. methylcrotonoyl-CoA carboxylaseIBA
9. EnzymesIBA
10. isovaleric AcidemiaIBA

Therapies and Procedures

1. Drug Therapy (Chemotherapy)