Maple Syrup Urine DiseaseSymptoms, Doctors, Treatments, Advances & More
Maple Syrup Urine Disease Overview
Learn About 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.
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.
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.
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.
Giselli Scaini practices practicing medicine in Criciuma, Brazil. Scaini is rated as an Elite expert by MediFind in the treatment of Maple Syrup Urine Disease. They are also highly rated in 3 other conditions, according to our data. Their clinical expertise encompasses Maple Syrup Urine Disease, Bipolar Disorder (BPD), Tyrosinemia Type 2, Memory Loss, and Deep Brain Stimulation.
Leticia Wessler practices practicing medicine in Criciuma, Brazil. Ms. Wessler is rated as an Elite expert by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Maple Syrup Urine Disease.
Ida Schwartz practices practicing medicine in Porto Alegre, Brazil. Ms. Schwartz is rated as an Elite expert by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 29 other conditions, according to our data. Her clinical expertise encompasses Maple Syrup Urine Disease, Mucolipidosis 3, Mucolipidosis Type 4, Sialidosis, and Liver Transplant.
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...
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...
Published Date: July 01, 2017
Published By: National Institutes of Health