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Maple Syrup Urine Disease

An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
Also Known As:
BCKD Deficiency; Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency; Classic Maple Syrup Urine Disease; Classical Maple Syrup Urine Disease; Intermediate Maple Syrup Urine Disease; Intermittent Maple Syrup Urine Disease; Keto Acid Decarboxylase Deficiency; MSUD (Maple Syrup Urine Disease); Maple Syrup Urine Disease, Classic; Maple Syrup Urine Disease, Classical; Maple Syrup Urine Disease, Intermediate; Maple Syrup Urine Disease, Intermittent; Maple Syrup Urine Disease, Thiamine Responsive; Maple Syrup Urine Disease, Thiamine-Responsive; Branched Chain Ketoaciduria; Branched Chain alpha Keto Acid Dehydrogenase Deficiency; Branched-Chain Ketoacidurias; Ketoaciduria, Branched-Chain; Ketoacidurias, Branched-Chain; Branched-Chain Ketoaciduria; Thiamine Responsive Maple Syrup Urine Disease
Networked: 712 relevant articles (15 outcomes, 32 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Phenylketonurias (Phenylketonuria)
2. Galactosemias (Galactosemia)
3. Homocystinuria
4. Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
5. Metabolic Diseases (Metabolic Disease)

Experts

1. Wajner, Moacir: 34 articles (01/2022 - 03/2002)
2. Streck, Emilio L: 22 articles (01/2022 - 04/2012)
3. Scaini, Giselli: 20 articles (01/2022 - 04/2012)
4. Ferreira, Gustavo C: 17 articles (05/2018 - 01/2008)
5. Dutra-Filho, Carlos Severo: 15 articles (01/2021 - 03/2003)
6. Schuck, Patrícia F: 15 articles (10/2017 - 11/2003)
7. Funchal, Cláudia: 12 articles (09/2007 - 12/2002)
8. Vargas, Carmen Regla: 10 articles (01/2021 - 09/2006)
9. Pessoa-Pureur, Regina: 10 articles (09/2007 - 01/2004)
10. Wendel, U: 9 articles (11/2007 - 02/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Maple Syrup Urine Disease:
1. Branched-Chain Amino AcidsIBA
2. Amino AcidsFDA Link
3. AcidsIBA
4. Proteins (Proteins, Gene)FDA Link
5. Leucine (L-Leucine)FDA Link
6. EnzymesIBA
7. Carnitine (L-Carnitine)FDA LinkGeneric
8. Fatty Acids (Saturated Fatty Acids)IBA
09/01/2023 - "Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease."
06/01/1991 - "Continuous venovenous hemofiltration was used to treat two neonates, one with maple syrup urine disease and the other with an inborn error of long-chain fatty acid oxidation. "
01/01/2005 - "Hair from patients with Maple Syrup Urine Disease (MSUD), however, does not contain 18-MEA and here, we report on the importance this unusual fatty acid in cuticular delamination. "
01/01/2021 - "Some IEMs can be effectively treated by dietary restrictions (e.g., phenylketonuria (PKU), maple syrup urine disease (MSUD)), and/or dietary intervention to remove offending compounds (e.g., acylcarnitine excretion with the oral intake of l-carnitine in the disorders of fatty acid oxidation). "
06/02/2022 - "A total of 32 types of IMD were detected among 2 461 patients, which included 10 amino acid disorders in 662 cases (26.9%), 6 common diseases were hyperphenylalaninemia, citrin deficiency, ornithine carbamoyltransferase deficiency, maple syrup urine disease, alkaptonuria, and tyrosinemia-I, 17 types of organic acidemias in 1 683 cases (68.4%), 6 common diseases were methylmalonic acidemia, propionic acidemia, valeric acidemia-type Ⅰ, isovaleric acidemia, 3-methylcrotonyl-CoA carboxylase deficiency and multiple carboxylase deficiency and 5 fatty acid β oxidative defects in 116 cases (4.7%), 2 common diseases were multiple acyl-CoA dehydrogenase deficiency and short-chain acyl-CoA dehydrogenase deficiency). "
9. 3-methylcrotonyl CoA carboxylase 1 deficiencyIBA
01/01/2016 - "Over the last few years, detection has clearly improved for tyrosinaemia type I (39 % in 2008 to over 80 % in 2011/2014), maple syrup urine disease (85 % in 2005 to 98 % in 2012), hawkinsinuria (62 % in 2010 to 88 % in 2014), aminoacylase I deficiency (43 % in 2009 to 73 % in 2012) and 3-methylcrotonyl-CoA carboxylase deficiency (60 % in 2005 to 93 % by 2011). "
01/01/1982 - "Examples are the leucine degradation defects, all encountered in the authors' laboratory: branched-chain ketoaciduria; isovaleric acidaemia; 3-methylcrotonylglycinuria; 3-methylglutaconic aciduria; and 3-hydroxy-3-methylglutaric aciduria. "
06/02/2022 - "A total of 32 types of IMD were detected among 2 461 patients, which included 10 amino acid disorders in 662 cases (26.9%), 6 common diseases were hyperphenylalaninemia, citrin deficiency, ornithine carbamoyltransferase deficiency, maple syrup urine disease, alkaptonuria, and tyrosinemia-I, 17 types of organic acidemias in 1 683 cases (68.4%), 6 common diseases were methylmalonic acidemia, propionic acidemia, valeric acidemia-type Ⅰ, isovaleric acidemia, 3-methylcrotonyl-CoA carboxylase deficiency and multiple carboxylase deficiency and 5 fatty acid β oxidative defects in 116 cases (4.7%), 2 common diseases were multiple acyl-CoA dehydrogenase deficiency and short-chain acyl-CoA dehydrogenase deficiency). "
12/17/2005 - "Because screening may lead to considerably better outcomes in affected newborns, the council recommends expanding current screening to include medium-chain acyl-CoA dehydrogenase deficiency, sickle-cell disease and 12 other rare disorders: biotinidase deficiency, galactosaemia, glutaricaciduria type I, HMG-CoA lyase deficiency, holocarboxylase-synthetase deficiency, homocystinuria, isovaleric-acidaemia, long-chain hydroxyacyl-CoA dehydrogenase deficiency, maple syrup urine disease, 3-methylcrotonyl-CoA carboxylase deficiency, tyrosinaemia I and very-long-chain acyl-CoA dehydrogenase deficiency. "
11/01/2001 - "We identified 22 babies with amino acid disorders (7 phenylketonuria, 11 hyperphenylalaninemia, 1 maple syrup urine disease, 1 hypermethioninemia, 1 arginosuccinate lyase deficiency, and 1 argininemia) and 20 infants with fatty and organic acid disorders (10 medium-chain acyl-CoA dehydrogenase deficiencies, 5 presumptive short-chain acyl-CoA dehydrogenase deficiencies, 2 propionic acidemias, 1 carnitine palmitoyltransferase II deficiency, 1 methylcrotonyl-CoA carboxylase deficiency, and 1 presumptive very-long chain acyl-CoA dehydrogenase deficiency). "
10. Neurotransmitter Agents (Neurotransmitter)IBA
02/01/2003 - "We conclude that acute neuronal network dysfunction in maple syrup urine disease is mainly based on an imbalance of the presynaptic glutamatergic/GABAergic neurotransmitter concentrations or their release."
06/01/2013 - "Improved amino acid, bioenergetic metabolite and neurotransmitter profiles following human amnion epithelial cell transplant in intermediate maple syrup urine disease mice."
04/01/2009 - "Current findings suggest two converging mechanisms of brain injury in maple syrup urine disease including: (i) neurotransmitter deficiencies and growth restriction associated with branched-chain amino acid accumulation and (ii) energy deprivation through Krebs cycle disruption associated with branched-chain ketoacid accumulation. "
07/01/2013 - "Metabolic disorders appear to result in neuropsychiatric illness either through disruption of late neurodevelopmental processes (metachromatic leukodystrophy, adrenoleukodystrophy, GM2 gangliosidosis, Niemann-Pick type C, cerebrotendinous xanthomatosis, neuronal ceroid lipofuscinosis, and alpha mannosidosis) or via chronic or acute disruption of excitatory/inhibitory or monoaminergic neurotransmitter systems (acute intermittent porphyria, maple syrup urine disease, urea cycle disorders, phenylketonuria and disorders of homocysteine metabolism). "
01/01/1996 - "The elevation of large neutral amino acids in the interstitial space is discussed in terms of the synthesis of leucine and neurotransmitters in maple syrup urine disease."

Therapies and Procedures

1. Liver Transplantation
2. Transplantation
3. Continuous Renal Replacement Therapy
4. Peritoneal Dialysis
5. Therapeutics