Maple Syrup Urine Disease
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Learn About Maple Syrup Urine Disease

What is the definition of 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.

What are the causes of Maple Syrup Urine Disease?

Mutations in the BCKDHA, BCKDHB, and DBT genes can cause maple syrup urine disease. These three genes provide instructions for making proteins that work together as part of a complex. The protein complex is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many kinds of food, particularly protein-rich foods such as milk, meat, and eggs.

How prevalent is Maple Syrup Urine Disease?

Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide. The disorder occurs much more frequently in the Old Order Mennonite population, with an estimated incidence of about 1 in 380 newborns.

Is Maple Syrup Urine Disease an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Maple Syrup Urine Disease Local Doctors?
Elite in Maple Syrup Urine Disease
Elite in Maple Syrup Urine Disease
Porto Alegre, RS, BR 

Ida Schwartz practices in Porto Alegre, Brazil. Ms. Schwartz is rated as an Elite expert by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Maple Syrup Urine Disease, Sialidosis, Gaucher Disease, Mucolipidosis 3, and Liver Transplant.

Elite in Maple Syrup Urine Disease
Elite in Maple Syrup Urine Disease
Criciuma, SC, BR 

Leticia Wessler practices in Criciuma, Brazil. Ms. Wessler is rated as an Elite expert by MediFind in the treatment of Maple Syrup Urine Disease. Her top area of expertise is Maple Syrup Urine Disease.

 
 
 
 
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Ada Hamosh
Distinguished in Maple Syrup Urine Disease
Medical Genetics | Pediatrics
Distinguished in Maple Syrup Urine Disease
Medical Genetics | Pediatrics

Rubenstein Child Health Building

200 North Wolfe Street, Rubenstein BLDG Lower Level, Rubenstein BLDG Lower Level, 
Baltimore, MD 
Languages Spoken:
English

Dr. Ada Hamosh is the Dr. Frank V. Sutland Professor of Pediatric Genetics in the Departments of Genetic Medicine and Pediatrics. Since 2002, she has served as clinical director of the McKusick-Nathans Institute of Genetic Medicine, now Department of Genetic Medicine and scientific director of the Online Mendelian Inheritance in Man® (OMIM), a catalog of more than 16,800 human genes and genetic disorders created by Dr. Victor A. McKusick. Her research centers the molecular basis of Mendelian disorders, the integration of genetics into clinical practice and the diagnosis and management of inborn errors of metabolism. Dr. Hamosh earned a bachelor’s degree in biology from Wesleyan University, a medical degree from Georgetown University School of Medicine and a master’s of public health from Johns Hopkins University School of Public Health. She later completed a fellowship in medical and biochemical genetics from the Johns Hopkins School of Medicine, before joining the Johns Hopkins faculty in 1992. Dr. Hamosh began her genetics career focusing on cystic fibrosis, serving as coordinator of the International Cystic Fibrosis Genotype-Phenotype Consortium. She served as chair of the Maryland State Advisory Council for Hereditary & Congenital Disorders from 2001-2009, during which time she also served on the executive committee of the Genetic Counseling Training Program, run by Johns Hopkins University and the National Human Genome Research Institute. Dr. Hamosh has authored more than 128 publications on a variety of topics. In addition, she is a member of 16 professional associations and advisory committees including the American Society of Human Genetics, the Steering Committee of the Global Alliance for Genomics and Health, and the executive board of the Human Genome Organization, of which she will be President from 2023-2025. Dr. Hamosh was recognized in Baltimore magazine as one of the region’s top doctors in 2013, and 2016-2020. Dr. Hamosh is rated as a Distinguished provider by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation.

What are the latest Maple Syrup Urine Disease Clinical Trials?
Study on the Metabolic Effects of a Diet Replaced With Essential Amino Acids and Carboxylic Acids (EAA-AC) in Patients With Severe Obesity

Summary: The effectiveness of low-protein diets supplemented with essential aminoacid (EAA) formulas in genetic disorders of amino acid (AA) catabolism, such as maple syrup urine disease (MSUD), is widely recognized (Blackburn PR et al. 2017). The main aim of the present study is to evaluate a difference in the effectiveness of a multidisciplinary rehabilitation program in patients with high degree of obes...

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Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD).

Summary: The purpose of this project is to study the effectiveness of teaching teens and young women with Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD) about their disease and nutrition related issues in a camp environment. It will also look at pregnancy outcome results in women with PKU who attended Metabolic Camp and compare their results to other women with PKU who have not attended the Meta...

Who are the sources who wrote this article ?

Published Date: July 01, 2017
Published By: National Institutes of Health