maple syrup urine disease

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Related to maple syrup urine: alkaptonuria, homocystinuria, MSUD

maple syrup urine disease

[′mā·pəl ¦sir·əp ′yu̇r·ən di‚zēz]
(medicine)
A hereditary metabolic disorder caused by deficiency of branched-chain keto acid decarboxylase; characterized by the maple-syrup-like odor of urine. Also known as branched-chain ketoaciduria.
References in periodicals archive ?
On the mechanism of L-alloisoleucine formation: studies on a healthy subject and in fibroblasts from normals and patients with maple syrup urine disease.
Maple syrup urine disease prevents the digestion of some proteins, and is found in one in 120,000 births.
The new test will also check for maple syrup urine disease, homocystinuria, glutaric acidaemia type 1 and isovaleric acidaemia.
These conditions are homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).
The Newborn Blood Spot Screening Programme has been extended from January 5, to screen for an additional four rare, but potentially disabling, conditions which are homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).
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.
Today, Cambrooke is a leading global provider of therapeutic nutrition products, also known as medical foods, for patients with inborn errors of protein metabolism such as PKU and 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.
The urine of these infants had an odor resembling maple syrup (burned sugar), hence, maple sugar urine disease and, later, maple syrup urine disease.