Maple syrup urine disease

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death.

• Publication year

  2013

• Venue

  Definitions

• Publication date

  2013-05-22

• Fields of study

  Not labeled

• Identifiers
  DOI 10.1007/3-540-27660-2_40
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease

  2015cited by this paper
• Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.

  2014cited by this paper
• Imaging in Classic Form of Maple Syrup Urine Disease: A Rare Metabolic Central Nervous System

  2013cited by this paper
• A Novel Regulatory Defect in the Branched‐Chain α‐Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

  2013cited by this paper
• Imaging in Neonatal Maple Syrup Urine Disease

  2012cited by this paper
• DNA Carrier Testing and Newborn Screening for Maple Syrup Urine Disease in Old Order Mennonite Communities

  2010cited by this paper
• Variant maple syrup urine disease (MSUD)—The entire spectrum

  2006cited by this paper
• MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation

  2003cited by this paper
• Maple Syrup Urine Disease

  1968cited by this paper

• Genetic Metabolic Disease

  2022cites this paper
• Akçaağaç Şurubu Hastalığının Beslenme Tedavisinde Güncel Yaklaşımlar

  2021cites this paper
• Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department

  2020influential citation
• Treatable Metabolic Epilepsies

  2020cites this paper
• Genotype–phenotype correlation of 33 patients with maple syrup urine disease

  2020influential citation
• Amish Perspectives of the Genetic Counseling Process

  2019cites this paper
• Acute exposure to leucine modifies behavioral parameters and cholinergic activity in zebrafish

  2019cites this paper
• Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism

  2018cites this paper
• CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT

  2018cites this paper
• Novel biomarkers for inborn errors of metabolism in the metabolomics era

  2018cites this paper
• A topical report on the design principles of metabolism

  2018cites this paper
• Screening for inherited metabolic diseases using gas chromatography-tandem mass spectrometry (GC-MS/MS) in Sichuan, China.

  2017cites this paper
• Amino acids disorders

  2017cites this paper
• A Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene

  2017cites this paper
• Co-infection with coxsackievirus A5 and norovirus GII.4 could have been the trigger of the first episode of severe acute encephalopathy in a six-year-old child with the intermittent form of maple syrup urine disease (MSUD)

  2017influential citation
• Neurocognitive profiles in MSUD school-age patients

  2017cites this paper
• A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation

  2017cites this paper
• “Classical organic acidurias”: diagnosis and pathogenesis

  2017cites this paper
• Phenylketonuria and Hirschsprung Disease—A Report of an Unusual Neonatal Presentation

  2017cites this paper
• Implications of Maple Syrup Urine Disease in Newborns.

  2017cites this paper
• Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy.

  2017cites this paper
• Deciphering the Biosynthetic Origin of L-allo-Isoleucine.

  2016cites this paper
• Quantitative analysis of amino acids and acylcarnitines combined with untargeted metabolomics using ultra-high performance liquid chromatography and quadrupole time-of-flight mass spectrometry.

  2016cites this paper
• Living related versus deceased donor liver transplantation for maple syrup urine disease.

  2016cites this paper
• Inborn Errors of Metabolism (Metabolic Disorders)

  2016cites this paper
• Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

  2016cites this paper
• Isoleucine deficiency in a neonate treated for maple syrup urine disease masquerading as acrodermatitis enteropathica

  2016cites this paper
• Maple Syrup Urine Disease Masquerading as Acute Abdomen

  2016cites this paper
• Metabolic, endocrine, and other genetic disorders.

  2016cites this paper
• Branched chain amino acid metabolic reprogramming in heart failure.

  2016cites this paper
• Successful living donor liver transplantation for classical maple syrup urine disease

  2016cites this paper
• Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

  2015cites this paper
• Bakteriyel Menenjitle Birlikte Akçaağaç Şurubu İdrar Hastalığı

  2015cites this paper
• General Criteria for Transplantation in Children

  2015cites this paper
• Nutrition Management of Maple Syrup Urine Disease

  2015cites this paper
• Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.

  2015cites this paper
• Branched Chain Amino Acids and Maple Syrup Urine Disease

  2015influential citation
• Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation.

  2015cites this paper
• Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.

  2015cites this paper
• Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation

  2014cites this paper
• Prevention of DNA damage by L-carnitine induced by metabolites accumulated in maple syrup urine disease in human peripheral leukocytes in vitro.

  2014cites this paper
• Imaging manifestations of the leukodystrophies, inherited disorders of white matter.

  2014cites this paper
• Challenges in Diagnosing a Metabolic Disorder

  2014cites this paper
• Peri-Operative Management Of Maple Syrup Urine Disease: The Surgical Perspective

  2014influential citation
• Keragaman Gen Branched Chain Ketoacid Dehydrogenase E1-α Polypeptide (BCKDHA) Ekson 2 dan 3 pada Sapi Madura

  2013cites this paper
• Domino liver transplantation in maple syrup urine disease: a case report and review of the literature.

  2013cites this paper
• Adipose transplant for inborn errors of branched chain amino acid metabolism in mice.

  2013cites this paper
• Detection limit of intragenic deletions with targeted array comparative genomic hybridization

  2013cites this paper
• Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease

  2013cites this paper
• Role and Function of Dehydrogenases in CNS and Blood-Brain Barrier Pathophysiology

  2012cites this paper
• 'Nosing Around' the human skin: What information is concealed in skin odour?

  2012cites this paper
• Hyperammonemia in review: pathophysiology, diagnosis, and treatment

  2012cites this paper
• Neuropsychiatric and neurochemical sequelae of Maple Syrup Urine Disease

  2011cites this paper
• Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease

  2011influential citation