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What is maple syrup urine disease?

ANSWER

A lack of an enzyme called BCKD makes amino acids build up in your body. This causes nerve damage, and makes your pee smell like syrup.

From: Inherited Metabolic Disorders WebMD Medical Reference

SOURCES:

Fleisher, G. Lippincott, Wilkins & Wilkins, 2006. Textbook of Pediatric Emergency Medicine,

Scriver, C. McGraw-Hill, 2001. Metabolic and Molecular Bases of Inherited Disease,

McMillan, J. , Lippincott, Williams & Wilkins, Philadelphia, 2006. Oski's Pediatrics: Principles and Practice

Reviewed by Michael Dansinger on November 1, 2018

SOURCES:

Fleisher, G. Lippincott, Wilkins & Wilkins, 2006. Textbook of Pediatric Emergency Medicine,

Scriver, C. McGraw-Hill, 2001. Metabolic and Molecular Bases of Inherited Disease,

McMillan, J. , Lippincott, Williams & Wilkins, Philadelphia, 2006. Oski's Pediatrics: Principles and Practice

Reviewed by Michael Dansinger on November 1, 2018

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What is Friedreich's ataxia?

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