Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia... 29 KB (3,409 words) - 01:43, 2 March 2024 |
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... 44 KB (5,372 words) - 05:57, 10 May 2024 |
Thiamine (category Poultry diseases) beriberi and Wernicke encephalopathy. They are also used to treat maple syrup urine disease and Leigh syndrome. Supplements and medications are typically... 59 KB (5,759 words) - 02:37, 20 March 2024 |
Isoleucine (section Metabolic diseases) impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria (CMAMMA) Maple syrup urine disease (MSUD) Methylmalonic acidemia Propionic... 15 KB (1,403 words) - 23:32, 3 April 2024 |
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... 16 KB (1,781 words) - 18:08, 24 April 2024 |
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)... 16 KB (2,087 words) - 06:53, 13 August 2023 |
Organic acidemia (category Rare diseases) methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease. Most of the organic acidemias result from defective autosomal... 7 KB (711 words) - 07:18, 15 April 2024 |
in only trace amounts, except for individuals suffering from maple syrup urine disease. Together with valine, leucine, and isoleucine, alloisoleucine... 3 KB (202 words) - 00:23, 1 April 2024 |
Inborn errors of metabolism (redirect from Metabolistic disease) Disorders of amino acid metabolism phenylketonuria tyrosinemia maple syrup urine disease glutaric acidemia type 1 Urea Cycle Disorder or Urea Cycle Defects... 15 KB (1,517 words) - 07:04, 15 April 2024 |
Medical genetics of Jews (redirect from Jewish disease) resistance to intermarriage of this population. Kaposi's sarcoma Maple syrup urine disease Mucolipidosis IV Myeloproliferative neoplasms including polycythemia... 45 KB (3,836 words) - 12:15, 9 May 2024 |
fictional novels and plays. He identified two inherited diseases: maple syrup urine disease which is a defect in amino acid metabolism, and a defect... 10 KB (1,022 words) - 17:58, 1 February 2024 |
congenital metabolic diseases; some of the common include Maple syrup urine disease and other organic acidurias Type 1 glycogen storage disease Type III glycogen... 21 KB (1,265 words) - 01:46, 22 December 2023 |
Neonatal heel prick (section Detected diseases) including: Immunoreactive trypsinogen to detect cystic fibrosis. Maple syrup urine disease (MSUD or Branched Chain Ketonuria) a rare disorder where an error... 8 KB (967 words) - 22:38, 4 January 2024 |
symptom of meningitis, tetanus, severe kernicterus, or the rare maple syrup urine disease. This marked extensor tone can cause infants to "rear backwards"... 7 KB (607 words) - 00:22, 14 April 2024 |
Congenital hypothyroidism Isovaleric acidemia Glutaricaciduria type 1 Maple syrup urine disease Canada, the US, and the Netherlands offer more extensive newborn... 9 KB (1,038 words) - 10:18, 20 March 2024 |
Chromosome 19 (section Diseases and disorders) polypeptide (maple syrup urine disease). Gene map location 19q13.1-q13.2 APOE: Apolipoprotein E, gene associated with Alzheimer's disease. Gene map locus... 30 KB (2,547 words) - 01:46, 3 December 2023 |
particularly unusual symptom emerges, followed by uncontrollable seizures, it is discovered that the infant is affected by maple syrup urine disease.... 37 KB (21 words) - 16:51, 10 May 2024 |
Chromosome 6 (section Diseases and disorders) branched-chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) (6q14.1) BMIQ3: body mass index QTL 3 TMEM242 encoding transmembrane... 35 KB (2,422 words) - 03:37, 10 March 2024 |
Valine (section Metabolic diseases) impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria (CMAMMA) Maple syrup urine disease (MSUD) Methylmalonic acidemia Propionic... 14 KB (1,152 words) - 11:04, 19 February 2024 |
adapted his method to early screening tests for galactosemia and maple syrup urine disease. Guthrie received his doctorate from the University of Minnesota... 12 KB (1,449 words) - 19:35, 26 January 2022 |
Propionic acidemia (category Rare diseases) same enzyme pathway. Methylmalonic acidemia Isovaleric acidemia Maple syrup urine disease Online Mendelian Inheritance in Man (OMIM): 606054 Ravn K; Chloupkova... 14 KB (1,375 words) - 04:24, 22 January 2024 |
Urinalysis (redirect from Urine microscopy) metabolism cause characteristic odors, such as maple syrup urine disease (which takes its name from the urine scent) and phenylketonuria (which causes a "mousey"... 67 KB (8,093 words) - 02:23, 28 March 2024 |
hypoglycemia, with the subtype IXa mainly affecting male children Maple syrup urine disease Prader-Willi syndrome Pyruvate carboxylase deficiency Ketotic... 11 KB (1,223 words) - 13:17, 5 March 2024 |