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Other Metabolic Disorders

Although phenylketonuria (PKU) and galactosemia are more common, there are other types of metabolic disorders which sometimes affect infants, children, or adults.

Amino Acid Disorders

A person has an amino acid disorder when their body cannot make or break down certain amino acids (chemicals) that the body uses for various functions. These guides are for parents of babies recently screened for the following types of amino acid disorders:

Homocystinuria

Fatty Acid Oxidation Disorders

A person has a fatty acid oxidation disorder when their body is unable to use (oxidize) fatty acids to make energy. This can happen when an enzyme (chemical) used to break down fatty acids is missing from their body or not working correctly. These guides are for parents of babies recently screened for the following types of fatty acid oxidation disorders:

CPT I Deficiency
CPT II Deficiency
LCHADD
MCADD
SCADD
VLCADD

Organic Acid Disorders

A person has an organic acid disorder when their body cannot break down certain organic acids (chemicals) that the body makes during various functions.  The buildup of these organic acids in the body can be toxic and requires treatment. These guides are for parents of babies recently screened for the following types of organic acid disorders:

IVA
MSUD
PA and MMA

Urea Cycle Disorders

A person has a urea cycle disorder when their body is missing enzymes that remove excess nitrogen from the blood. This section is for patients, families, and educators of children, teens and young adults who have urea cycle disorders.