maple syrup urine disease


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Related to maple syrup urine disease: maple syrup diet
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Noun1.maple syrup urine disease - an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
acetonuria, ketoaciduria, ketonuria - excessive amounts of ketone bodies in the urine as in diabetes mellitus or starvation
References in periodicals archive ?
We aimed to evaluate the magnetic resonance imaging (MRI) and clinical features of maple syrup urine disease (MSUD).
Urine GC-MS (Gas chromatography - mass spectrometry) was done, which confirmed the diagnosis as Maple Syrup Urine Disease.
Acer said it also intends to use the financing to support manufacturing and clinical development of ACER-001, a proprietary taste-masked, immediate-release formulation of sodium phenylbutyrate (NaPBA) for Maple Syrup Urine Disease (MSUD) and Urea Cycle Disorder (UCD), serious genetic diseases which impact amino acid and ammonia metabolism, respectively.
Newborn screening includes a blood test, hearing screening and screening for critical congenital heart defects they are conducted to diagnose disorders such as newborn hearing loss, cystic fibrosis, maple syrup urine disease, congenital hypothyroidism, critical congenital heart disease, sickle cell disease and congenital adrenal hyperplasia.
The new test will also check for maple syrup urine disease, homocystinuria, glutaric acidaemia type 1 and isovaleric acidaemia.
From early next year, 'heel prick' blood samples taken from newborn babies will be tested for four additional metabolic disorders - glutaric aciduria type 1, homocystinuria, isovaleric acidaemia and maple syrup urine disease.
Among the most common rare diseases in the Philippines are the maple syrup urine disease with 126 patients listed in PSOD, and the mucopolysaccharidoses II with 49 patients.
Little Habul Khatoom, aged five months, was hours from death before test results found she had maple syrup urine disease (MSUD).
Fanconi-Bickel-like syndrome associated to maple syrup urine disease
The condition, maple syrup urine disease - so-called as it can cause bodily fluids to omit a similar smell - affects just one in 250,000 people around the world.
Maple Syrup Urine Disease, Chikungunya Fever and Foreign Accent Syndrome are among my favorites.