Maple syrup urine disease

What is Maple syrup urine disease?

An inborn error of metabolism caused by defective oxidative decarboxylation of α-keto acids of leucine, isoleucine, and valine; these branched-chain amino acids are present in the blood and urine in high concentrations; manifestations of disease include feeding difficulties, physical and mental retardation, and a urine odor similar to that of maple syrup; neonatal death is common. Autosomal recessive inheritance, caused by mutation in the E1, E2 or E3 subunit of the branched-chain α-keto acid dehydrogenase gene (BCKDH) on 19q. There are various forms differentiated by the subunit of BCKDH mutated.

Questions and answers on "Maple syrup urine disease"

Info please on maple sugar urine disease~what foods to avoid ~have 14 mo old who tested neg for PKU @ birth and today has maple smelling urine. She...

doctor1 MD

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Hello and Welcome to HCM

I really appreciate your concern.

Diagnosis of MSUD (Maple Syrup Urine Disease )...

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Hello. 2 yrs ago I was diagnosed with cardio microvascular disease with Prinzmetal's. I talke 60 mg diltiazem 3x/day (just switched from XR bc I...

doctor1 MD

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I would explain as follows:

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Hello Debra!

I carefully passed through your medical history and would like to explain...

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Hi my nine year old daughter's sweat has an off sweet smell and she as abdominal pain after everything she eats with sweating as well as...

doctor1 MD


Thank you for your query on Healthcare Magic.

Sweet smell of sweat is usually seen in some rare metabolic disorders like maple syrup urine disease...

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