Maple syrup urine disease (MSUD) is a rare, inherited metabolic disorder that affects the body’s ability to metabolize amino acids due to a deficiency...

and their toxic by-products in the blood and urine, giving the condition the name maple syrup urine disease. On the other hand, unchecked activity of this...

fenugreek, can impart a maple syrup aroma to one's sweat and urine. In some individuals with the genetic disorder maple syrup urine disease, sotolon is spontaneously...

beriberi and Wernicke encephalopathy. They are also used to treat maple syrup urine disease and Leigh syndrome. Supplements and medications are typically...

the presence of amino acids in urine (diagnosed as maple syrup urine disease) can cause it to smell of maple syrup. Eating asparagus can cause a strong...

impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria (CMAMMA) Maple syrup urine disease (MSUD) Methylmalonic acidemia Propionic...

their urine smelled sweet like maple syrup. While he was not the one to discover the specific gene, he did discover the maple syrup urine disease(MSUD)...

from ɑ-KIC. α-KIC is a key metabolite present in the urine of people with Maple syrup urine disease, along with other branched-chain amino acids. Derivatives...

methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease. Most of the organic acidemias result from defective autosomal...

to bodily excretions (such as ear wax and urine), leading to a pathology known as maple syrup urine disease. This enzyme is an autoantigen recognized...

resistance to intermarriage of this population. Kaposi's sarcoma Maple syrup urine disease Mucolipidosis IV Myeloproliferative neoplasms including polycythemia...

Congenital hypothyroidism Isovaleric acidemia Glutaricaciduria type 1 Maple syrup urine disease Canada, the US, and the Netherlands offer more extensive newborn...

in only trace amounts, except for individuals suffering from maple syrup urine disease. Together with valine, leucine, and isoleucine, alloisoleucine...

fictional novels and plays. He identified two inherited diseases: maple syrup urine disease which is a defect in amino acid metabolism, and a defect...

the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described...

congenital metabolic diseases; some of the common include Maple syrup urine disease and other organic acidurias Type 1 glycogen storage disease Type III glycogen...

Disorders of amino acid metabolism phenylketonuria tyrosinemia maple syrup urine disease glutaric acidemia type 1 Urea Cycle Disorder or Urea Cycle Defects...

1002/ajmg.c.20003. PMID 12888983. S2CID 25317649. "Maple Syrup Urine Disease (MSUD) - Jewish Genetic Disease". Forbidden Fruit:Inbreeding among polygamists...

adapted his method to early screening tests for galactosemia and maple syrup urine disease. Guthrie received his doctorate from the University of Minnesota...

including: Immunoreactive trypsinogen to detect cystic fibrosis. Maple syrup urine disease (MSUD or Branched Chain Ketonuria) a rare disorder where an error...

polypeptide (maple syrup urine disease). Gene map location 19q13.1-q13.2 APOE: Apolipoprotein E, gene associated with Alzheimer's disease. Gene map locus...

metabolism such as urea cycle disorders, maple syrup urine disease, and PKU. Measurement of amino acids in urine can be useful in the diagnosis of cystinuria...

branched-chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) (6q14.1) BMIQ3: body mass index QTL 3 TMEM242 encoding transmembrane...

amount. Abnormal activity of this enzyme often leads to diseases such as maple syrup urine disease and cachexia. BCKDK's structure consists of a characteristic...

acidemia type I (GA1), which is common in the Amish population and maple syrup urine disease (MSUD), which has a high prevalence in the Old Order Mennonites...

symptom of meningitis, tetanus, severe kernicterus, or the rare maple syrup urine disease. This marked extensor tone can cause infants to "rear backwards"...

impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria (CMAMMA) Maple syrup urine disease (MSUD) Methylmalonic acidemia Propionic...

same enzyme pathway. Methylmalonic acidemia Isovaleric acidemia Maple syrup urine disease Online Mendelian Inheritance in Man (OMIM): 606054 Ravn K; Chloupkova...

to affect at least 1 in 250,000 births in the United States. Maple syrup urine disease Methylmalonic acidemia Propionic acidemia Online Mendelian Inheritance...

metabolism cause characteristic odors, such as maple syrup urine disease (which takes its name from the urine scent) and phenylketonuria (which causes a "mousey"...