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Multiple Carboxylase Deficiency (Deficiency, Multiple Carboxylase)

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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

Experts

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 01/01/1985 - "We performed a complementation study with fibroblast strains from seven patients, (four patients with "French" phenotype, two patients with "American" phenotype, one patient with biotin responsive multiple carboxylase deficiency, MCD). " 07/01/2008 - "Defects in biotin metabolism, including HCS, give rise to multiple carboxylase deficiency (MCD). " 12/10/2004 - "Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency." 05/01/2004 - "The biotin-responsive, multiple carboxylase deficiencies are autosomal recessively inherited disorders of metabolism in which biotin-dependent carboxylases show diminished activity. " 01/01/2004 - "An inherited deficiency of HCS results in the disorder 'multiple carboxylase deficiency', which is characterized by reduced activity of all biotin-dependent carboxylases. "
2.	VitaminsIBA 06/09/2000 - "In the recent years, the interest in this vitamin has been rekindled, mainly due to its association with serious human disorders, such as the inherited syndrome multiple carboxylase deficiency, which can be successfully treated with biotin administration. " 03/01/2006 - "This article summarizes some findings of a research that I have pursued for the past 25 years, whose roots are immersed in the field of inherited metabolic disorders, and deal with different aspects of the vitamin biotin, starting with a patient with multiple carboxylase deficiency (MCD). "
3.	LigasesIBA 06/01/2008 - "Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency." 12/10/2004 - "Holocarboxylase synthetase (HCS) catalyzes the biotinylation of five carboxylases in human cells, and mutations of HCS cause multiple carboxylase deficiency (MCD). " 05/01/1993 - "We present a new case of holocarboxylase synthetase (HCS) deficiency, a rare autosomal recessive metabolic disorder, causing the "early-onset" form of multiple carboxylase deficiency. " 04/09/1981 - "If the primary defect in multiple carboxylase deficiency is due to deficient activity of holocarboxylase synthetase, our results would indicate that there may be a common holocarboxylase synthetase, or at least a common subunit, for all the carboxylases. " 01/01/1991 - "There are two types of multiple carboxylase deficiency, the neonatal form with holocarboxylase synthetase defect and the late-onset form with biotinidase deficiency. "
4.	BiotinidaseIBA 01/01/2003 - "Results of urinary organic acid analysis were consistent with multiple carboxylase deficiency, and low biotinidase activity was also observed. " 11/01/1986 - "Multiple carboxylase deficiency due to deficiency of biotinidase." 10/01/1986 - "This suggestion is based on the ease of testing, the necessity for presymptomatic laboratory diagnosis, and on the effectiveness of early treatment of the multiple carboxylase deficiency caused by defective biotinidase." 08/13/1983 - "Deficient liver biotinidase activity in multiple carboxylase deficiency." 12/05/2008 - "In humans, genetic deficiency of HCS or biotinidase results in the life-threatening disorder biotin-responsive multiple carboxylase deficiency, characterized by a reduction in the activities of all biotin-dependent carboxylases. "
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 01/01/1982 - "Deficient pyruvate carboxylase activity less than 6 pmoles/min per mg protein was demonstrated in the lymphoblasts from a patient with biotin-dependent multiple carboxylase deficiency. " 01/01/1988 - "1. The multiple carboxylase deficiencies are inborn errors in the metabolism of biotin in which there is defective activity of propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase and pyruvate carboxylase. " 01/01/1984 - "In biotin-responsive multiple carboxylase deficiency, a characteristic organic aciduria reflects in vivo deficiency of mitochondrial propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase, and pyruvate carboxylase. " 09/01/1981 - "Three biotin-dependent enzymes, pyruvate carboxylase (PC), propionyl CoA carboxylase (PCC), and beta-methylcrotonyl CoA carboxylase (beta MCC), were biochemically characterized in fibroblasts from two patients with neonatal multiple carboxylase deficiency. " 07/01/1981 - "Multiple carboxylase deficiency is characterized by deficient activities of three biotin-dependent enzymes, propionyl coenzyme A carboxylase, pyruvate carboxylase, and beta-methylcrotonyl coenzyme A carboxylase. "
7.	Methylmalonyl-CoA Decarboxylase (Propionyl CoA Carboxylase)IBA 01/01/1988 - "1. The multiple carboxylase deficiencies are inborn errors in the metabolism of biotin in which there is defective activity of propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase and pyruvate carboxylase. " 01/01/1984 - "In biotin-responsive multiple carboxylase deficiency, a characteristic organic aciduria reflects in vivo deficiency of mitochondrial propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase, and pyruvate carboxylase. " 09/01/1981 - "Three biotin-dependent enzymes, pyruvate carboxylase (PC), propionyl CoA carboxylase (PCC), and beta-methylcrotonyl CoA carboxylase (beta MCC), were biochemically characterized in fibroblasts from two patients with neonatal multiple carboxylase deficiency. " 07/01/1981 - "Multiple carboxylase deficiency is characterized by deficient activities of three biotin-dependent enzymes, propionyl coenzyme A carboxylase, pyruvate carboxylase, and beta-methylcrotonyl coenzyme A carboxylase. " 04/09/1981 - "Multiple carboxylase deficiency has previously been characterized by deficient activity of three biotin-dependent enzymes: propionyl CoA carboxylase, pyruvate carboxylase and beta-methylcrotonyl CoA carboxylase. "
8.	methylcrotonoyl-CoA carboxylaseIBA 01/01/1988 - "1. The multiple carboxylase deficiencies are inborn errors in the metabolism of biotin in which there is defective activity of propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase and pyruvate carboxylase. " 01/01/1984 - "In biotin-responsive multiple carboxylase deficiency, a characteristic organic aciduria reflects in vivo deficiency of mitochondrial propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase, and pyruvate carboxylase. " 09/01/1981 - "Three biotin-dependent enzymes, pyruvate carboxylase (PC), propionyl CoA carboxylase (PCC), and beta-methylcrotonyl CoA carboxylase (beta MCC), were biochemically characterized in fibroblasts from two patients with neonatal multiple carboxylase deficiency. " 07/01/1981 - "Multiple carboxylase deficiency is characterized by deficient activities of three biotin-dependent enzymes, propionyl coenzyme A carboxylase, pyruvate carboxylase, and beta-methylcrotonyl coenzyme A carboxylase. " 04/09/1981 - "Multiple carboxylase deficiency has previously been characterized by deficient activity of three biotin-dependent enzymes: propionyl CoA carboxylase, pyruvate carboxylase and beta-methylcrotonyl CoA carboxylase. "
9.	EnzymesIBA 06/01/2008 - "Multiple carboxylase deficiency is a clinical condition caused by defects in the enzymes involved in biotin metabolism, holocarboxylase synthetase (HLCS) or biotinidase. " 09/01/1981 - "Three biotin-dependent enzymes, pyruvate carboxylase (PC), propionyl CoA carboxylase (PCC), and beta-methylcrotonyl CoA carboxylase (beta MCC), were biochemically characterized in fibroblasts from two patients with neonatal multiple carboxylase deficiency. " 07/01/1981 - "Multiple carboxylase deficiency is characterized by deficient activities of three biotin-dependent enzymes, propionyl coenzyme A carboxylase, pyruvate carboxylase, and beta-methylcrotonyl coenzyme A carboxylase. " 04/09/1981 - "Multiple carboxylase deficiency has previously been characterized by deficient activity of three biotin-dependent enzymes: propionyl CoA carboxylase, pyruvate carboxylase and beta-methylcrotonyl CoA carboxylase. "
10.	isovaleric AcidemiaIBA 11/01/1983 - "Using cultured skin fibroblasts, we studied the heterogeneity of inborn errors of leucine metabolism such as isovaleric acidemia (IVA), glutaric aciduria type II (GA II), and multiple carboxylase deficiency (MC). " 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. " 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. "

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 09/01/1993 - "Fetal drug therapy encompasses several areas, including the prevention of external genital masculinization in 21-hydroxylase deficiency syndrome (congenital adrenal hyperplasia), biochemical amelioration of methylmalonic acidemia, and biotin-responsive multiple carboxylase deficiency. "