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What are inherited metabolic disorders?

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Metabolism is like a chemical assembly line. Raw materials, half-finished products, and waste materials are constantly being used, made, transported, and gotten rid of. The "workers" on the assembly line are enzymes and other proteins that make chemical reactions happen.

In most inherited metabolic disorders, a single enzyme is either not made by the body or made in a way that doesn't work. The missing enzyme is like an absentee worker on the assembly line. Depending on that enzyme's job, toxic chemicals may build up or an essential substance may not get made.

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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