Metabolic DisordersHow Does It Occur?

A metabolic disorder occurs when a child inherits potential gene defects from the parents. As a result, the body can’t make enzymes necessary for individual chemical reactions or growth.

Most people with inherited metabolic disorders have a defective gene that results in a protein deficiency. There are many types of different genetic metabolic disorders. An infant born with an undiagnosed metabolic disorder can suffer from a lifetime of disabilities.

Types of Metabolic Disorders

Scientists have discovered hundreds of inherited metabolic disorders. Some common genetic metabolic disorders include:

-Hurler syndrome-abnormal bone structure and developmental delay

-Gaucher Disease-(bone pain, enlarged liver, and low platelet counts)

-Krabbe Disease-(progressive nerve damage, developmental delay in young children)

Newborn Screenings

Most states now have mandatory newborn screening for three broad types of metabolic conditions: Fatty Acid Disorders, Organic Acid disorders, and Amino Acid Disorders.

Fatty Acid disorders often screened for including CUD, LCHAD, MCAD, TFP, and VLCAD.
Organic Acid disorders often screened for include GA-1, HMG, IVA, 3-MCC, Cbl-A, B, BKT, MUT, PROP and MCD.
Amino Acid Disorders often screened for include ASA, CIT, HCY, MSUD, PKU, and TYR-I.
For a listing of Newborn Screening Requirements by State, click here.

Most hospitals have policies requiring all newborns to undergo state-mandated testing. Blood is usually drawn from a newborn within the first 24-48 hours. Routine screenings can often detect many types of different metabolic disorders.

For more information about metabolic disorders, visit the Journal of the American Medical Association (JAMA).

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