Metabolic Disorders
Metabolism refers to how the body absorbs energy from food and uses it to do many different things including breathe, move, think and grow. When a baby, child or adult has a metabolic disorder, some of the chemicals in their body used for metabolism are either missing, or not working correctly. Metabolic disorders are also called inborn errors of metabolism.
The following guides explain what each metabolic disorder is, why a person has it, the symptoms and effects, and the treatment:
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:
A person has galactosemia when their body has trouble processing a chemical called galactose. The resources in this section are for parents of babies and children with galactosemia, and also for teen girls and young women who have galactosemia and related health conditions.
Galactosemia
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:
Fatty Acid 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:
When our bodies metabolize protein, one waste product is nitrogen. Normally this excess nitrogen is converted to urea and is excreted in urine. When a person has a urea cycle disorder their body is missing enzymes that remove nitrogen (as urea) from the bloodstream. When nitrogen is not excreted, it can build up in the bloodstream in the form of ammonia. This buildup of ammonia can be highly toxic if the ammonia is not removed.
There are six types of urea cycle disorders.
NAGS deficiency (N-acetyl glutamate synthetase)
CPS 1 deficiency (carbamoyl phosphate synthetase)
OTC deficiency (ornithine transcarbamylase)
CTLN1 deficiency, also known as citrullinemia type 1, ASD or ASL (argininosuccinate synthetase)
ALD deficiency, also known as argininosuccinic aciduria, ASA, ASL or AL (arginino succinase)
ARG deficiency, also called hyperargininemia (arginase)