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:
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; 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: 458 relevant articles (8 outcomes, 26 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Metabolic Diseases (Metabolic Disease)
2. Body Weight (Weight, Body)
3. Familial Amyloid Neuropathies (Familial Amyloid Polyneuropathy)
4. Hypervitaminosis A
5. Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)


1. Wajner, Moacir: 32 articles (10/2015 - 12/2002)
2. Dutra-Filho, Carlos Severo: 13 articles (10/2015 - 03/2003)
3. Funchal, Cláudia: 12 articles (09/2007 - 12/2002)
4. Schuck, Patrícia F: 10 articles (05/2015 - 11/2003)
5. Pessoa-Pureur, Regina: 10 articles (09/2007 - 01/2004)
6. Ferreira, Gustavo C: 9 articles (05/2015 - 01/2008)
7. Wendel, U: 9 articles (11/2007 - 02/2000)
8. Streck, Emilio L: 8 articles (05/2015 - 04/2012)
9. Scaini, Giselli: 8 articles (05/2015 - 04/2012)
10. Dutra-Filho, Carlos S: 7 articles (03/2011 - 11/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Maple Syrup Urine Disease:
1. AcidsIBA
2. Branched-Chain Amino AcidsIBA
3. Leucine (L-Leucine)FDA Link
4. Amino AcidsFDA Link
5. 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."
6. Keto AcidsIBA
7. Proteins (Proteins, Gene)IBA
11/09/2000 - "This study provides evidence that KIC, a key metabolite accumulating in maple syrup urine disease, increases phosphorylation of IF proteins."
09/01/2014 - "Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease."
11/15/2005 - "In this study we investigated the involvement of Ca2+ on the effects of alpha-ketoisocaproic acid (KIC), the main metabolite accumulating in maple syrup urine disease (MSUD), on the phosphorylating system associated with the intermediate filament (IF) proteins in slices from cerebral cortex of 9-day-old rats. "
01/15/2004 - "In this study we investigated the effects of alpha-ketoisovaleric (KIV) and alpha-keto-beta-methylvaleric acids (KMV), metabolites accumulating in the inherited neurometabolic disorder maple syrup urine disease (MSUD), on the in vitro incorporation of 32P into intermediate filament (IF) proteins from cerebral cortex of young rats during development (9-21 days of age) We observed that KMV significantly increased the in vitro incorporation of 32P into the IF proteins studied in cortical slices of 12-day-old rats through the PKA and PKCaMII, with no alteration at the other ages. "
12/15/2002 - "In this study we investigated the effects of alpha-ketoisocaproic acid (KIC), the main keto acid accumulating in the inherited neurometabolic disorder maple syrup urine disease (MSUD), on the in vitro incorporation of 32P into intermediate filament (IF) proteins from cerebral cortex of rats during development. "
8. Isoleucine (L-Isoleucine)FDA Link
9. Glutamic Acid (Glutamate)FDA Link
10. Methylmalonic acidemiaIBA
05/01/2012 - "Of the 50 cases, 32 cases were diagnosed with organic acidemia disease, including 28 cases of methylmalonic acidemia, 2 cases of propionic acidemia, 1 case of maple syrup urine disease and 1 case of isovaleric acldemla. "
02/01/2010 - "We analyzed the results of four focus groups including a total of 19 women between the ages of 12 and 52 years with phenylketonuria, methylmalonic acidemia, or maple syrup urine disease attending an educational summer camp in 2008. "
01/01/2007 - "Spectra obtained from the study of urine samples from individual patients with argininosuccinic aciduria (ASA), classic homocystinuria (HCY), classic methylmalonic acidemia (MMA), maple syrup urine disease (MSUD), phenylketonuria (PKU) and type II tyrosinemia (TYRO) were compared with six control patient urine samples using principal component analysis (PCA). "
12/01/2007 - "Eleven of 158 patients (7.0%) with inborn metabolic error were confirmed, including five with methylmalonic acidemia, two with propionic acidemia, one with ornithine transcarbamylase deficiency, one with maple syrup urine disease, one with phenylketonuria, and one with biotinidase deficiency. "
10/01/2012 - "The etiologic disorders included inborn errors of metabolism (propionic acidemia, methylmalonic acidemia, citrullinemia, glutaric aciduria type 2, maple syrup urine disease, 10), or acute renal failure secondary to perinatal asphyxia (4), sepsis (2), prematurity (2), hypoplastic left heart syndrome (1), kernicterus (1). "

Therapies and Procedures

1. Transplants (Transplant)
2. Liver Transplantation
3. Transplantation (Transplant Recipients)
4. Peritoneal Dialysis
5. Renal Dialysis (Hemodialysis)