• Everything I have read about Maple Syrup Urine Disease refers to it as a pediatric disease characterized by the unique odor of the urine. (medhelp.org)
  • In this special Missouri Medicine report, doctors examine advances in diagnosis and treatment of this devastating and costly neurodegenerative disease. (medhelp.org)
  • The molecular basis of one maple syrup urine disease family has been determined for the first time. (elsevier.com)
  • Maple syrup urine disease is caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase (BCKD) enzyme complex, which catalyses the decarboxylation of the alpha-keto acids of leucine, isoleucine, and valine to their respective branched-chain acyl-CoAs. (medscape.com)
  • This "factory problem" results in elevations of BCAAs in plasma and their upstream intermediary products, α-ketoacids, in urine, & production of a "sterically-flipped" version of leucine called alloleucine, where, depending on your point of view, the branch of the chain sticks "out" or "back. (thebumblingbiochemist.com)
  • Laboratory investigation may reveal an increase in the urine and serum level of the branched chain amino acid ( leucine, isoleucine and valine). (medicalrealm.net)
  • [ 4 ] In 1971, Scriver et al reported the first case of thiamine-responsive maple syrup urine disease. (medscape.com)
  • No clear genotype-phenotype correlation between molecular and clinical phenotypes is known, with the exemption of mutations in E2, which cause thiamine-responsive maple syrup urine disease. (medscape.com)
  • Mutations in the following genes cause maple syrup urine disease: BCKDHA (Online Mendelian Inheritance in Man (OMIM) 608348) BCKDHB (Online Mendelian Inheritance in Man (OMIM) 248611) DBT (Online Mendelian Inheritance in Man (OMIM) 248610) DLD (Online Mendelian Inheritance in Man (OMIM) 238331) These four genes produce proteins that work together as the branched-chain alpha-keto acid dehydrogenase complex. (wikipedia.org)
  • Mutations in the BCKDHA , BCKDHB , and DBT genes can cause maple syrup urine disease. (medlineplus.gov)
  • Mutations in E1, E2, or E3 cause maple syrup urine disease. (medscape.com)
  • Find Maple Syrup Urine Disease and other Metabolic Disorders among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Exams. (pixorize.com)
  • The laboratory test for sickle cell disease is also designed to screen for other disorders (such as thalassemia and hemoglobin E) of hemoglobin (the oxygen carrier in red blood cells). (medicinenet.com)
  • Certain diseases, metabolic disorders and even bacteria can change the odour of your urine. (ehow.co.uk)
  • While many wouldn't readily think of smell as being one of the more important senses that physicians use, it can actually be extremely useful in diagnosing certain diseases and disorders. (listverse.com)
  • Individual metabolomic profiles provided excellent sensitivity and specificity for the detection of a wide range of metabolic disorders and identified novel biomarkers for some diseases. (springer.com)
  • The Centers for Disease Control and Prevention's Newborn Screening Quality Assurance Program (NSQAP) helps NBS laboratories ensure that testing accurately detects these disorders, does not delay diagnosis, minimizes false-positive reports, and sustains high-quality testing performance [ 3 ]. (mdpi.com)
  • Designated by the National Organization for Rare Disorders (NORD) as its first Center of Excellence for Clinical Care for Rare Diseases, the CNRDI aims to provide a medical home for patients and families seeking the most advanced care and expertise for rare genetic conditions that remain largely unknown to the general medical community. (childrensnational.org)
  • Children's National is nationally and internationally acknowledged as a leader in treating metabolic diseases, urea cycle disorders, genetic syndromes and lysosomal storage diseases . (childrensnational.org)
  • DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities. (medlineplus.gov)
  • ACHDNC recommendations to include two of the conditions, severe combined immunodeficiency and critical congenital heart disease, into the uniform newborn screening panel were approved by the Secretary in 2010 and 2011, respectively. (cdc.gov)
  • The five most commonly diagnosed conditions in the United States are 1) hearing loss, 2) primary congenital hypothyroidism, 3) cystic fibrosis, 4) sickle cell disease, and 5) medium-chain acyl-CoA dehydrogenase deficiency ( Table ) (3.6). (cdc.gov)
  • The conditions on the uniform newborn screening panel, with the exception of hearing loss and critical congenital heart disease, all are detected by dried blood spot screening. (cdc.gov)
  • Besides that, other symptoms and signs of maple syrup urine disease may include loss of Moro reflex and muscular rigidity, metabolic acidosis, and damaged to the brain. (medicalrealm.net)
  • Because high levels of these substances are toxic to the brain and other organs, this accumulation leads to the serious medical problems associated with maple syrup urine disease. (wikipedia.org)
  • As a downstream consequence of the residual or full loss of the enzymatic activity, there is an accumulation of toxic metabolites in the proximity of the metabolic block and/or a deficiency of an essential metabolic product which leads to the clinical presentation of the disease. (intechopen.com)
  • Researchers are studying other genes related to the same protein complex that may also be associated with maple syrup urine disease. (medlineplus.gov)
  • Cystic fibrosis (CF) is a disease that makes the body produce an abnormally thick, sticky mucus. (kveller.com)
  • Marshall, Gracy R, Kester M. Maple syrup urine disease: response to dietary modifications. (jaoa.org)
  • Dietary reatment started in the first few weeks of life can prevent the consequences of the disease and avoid the brain damage and learning disabilities . (medicinenet.com)
  • A cluster of topics related to medical foods , which are designed to meet the dietary requirements of individuals with special nutritional needs due to disease or medical conditions. (golden.com)