The chemical reactions in your body that turn food into energy are called metabolism. When these chemical reactions aren’t functioning properly, it is called a metabolism disorder.
What are pediatric metabolism disorders?
Pediatric metabolic disorders happen when a child’s body is not properly processing nutrients such as fats, proteins or sugars. Often, metabolism disorders are genetic conditions that are passed down in families. When older children develop a metabolism disorder, it is often due to obesity. This puts the child at a higher risk for diseases such as Type 2 diabetes and heart disease.
Conditions commonly treated include:
- Biotinidase deficiency
- Galactosemia
- Glycogen storage disorders
- Homocystinuria
- Maple syrup urine disease (MSUD)
- Phenylketonuria (PKU)
- Fatty acid oxidation disorders (including MCAD, LCHAD, VLCAD)
- Organic acid disorders (including propionic acidemia and isovaleric acidemia)
- Amino acid disorders (such as tyrosinemia)
- Urea cycle disorders
What are the symptoms of pediatric metabolism disorders?
Pediatric metabolic disorder symptoms include:
- Apnea (short periods without breathing)
- Lethargy (extreme tiredness)
- Not eating much
- Tachypnea (unusually fast breathing)
- Vomiting
How are pediatric metabolism disorders diagnosed?
Your child's doctor will order tests that can help diagnose metabolic disorders.
