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Child Neurology Consultants of Austin

Metabolic Disorders

Metabolic disorders are rare genetic disorders that result from a missing or defective enzyme in the body and include organic acidemias, urea cycle defects, fatty acid oxidation defects, glycogen storage disorders, lysosomal storage disorders, and mitochondrial diseases. Symptoms of metabolic disorders vary widely and can range from mild to life threatening. There are hundreds of metabolic disorders. Some include:

  • Familial hypercholesterolemia
  • Batten Disease
  • Gaucher disease
  • Hunter syndrome
  • Krabbe disease
  • Leukodystrophies
  • Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS)
  • Niemann-Pick
  • Pelizaeus-Merzbacher
  • Phenylketonuria (PKU)
  • Porphyria
  • Tay-Sachs disease

Overview of Metabolic Disorders


Metabolic disorders are caused by a genetic defect, sometimes inherited from the parents, that interferes with the body’s metabolism. Metabolism is the complex set of chemical reactions that your body uses to maintain life. Special enzymes break down food or certain chemicals so your body can use or store them. When these chemical processes don't work properly due to a hormone or enzyme deficiency, a metabolic disorder occurs.

Symptoms of metabolic disorders may include:

  • Abnormal odor of breath, sweat, and urine
  • Somnolence (excessive sleepiness)
  • Developmental delay
  • Failure to thrive (in infants)
  • Jaundice
  • Lethargy
  • Poor appetite
  • Seizures
  • Vomiting


Sometimes metabolic disorders are diagnosed by routine screening tests done at birth. Others are identified after a child shows symptoms of a disorder.


Most treatable metabolic conditions require special diets. Other metabolic conditions do not have treatments yet. Care options may include genetic counseling, nutritional counseling, and supportive therapies and medication.


For a complete evaluation of your child’s metabolic health, look no further than Child Neurology Consultants of Austin. We are the only pediatric neurology group in Central Texas, with locations in Far West and Cedar Park. Our team of board-certified, fellowship-trained child neurologists and nurse practitioners are standing by ready to help.

Call (512) 494-4000 for an appointment or submit an online appointment request form to get started.