Metabolic Disorders

The CHOC Specialists Metabolic Disorders Division is committed to diagnosing and caring for children with inborn metabolic diseases. Our treatment protocols and research are built upon the latest findings in our field, through a collaborative approach combining our expertise with other leading experts throughout the nation.

Genetic diseases are becoming increasingly recognized, and early testing, diagnosis and appropriate treatment interventions are critical to prevent complications, permanent disability, mental retardation and even death in children with inborn metabolic disorders. We are hopeful that many more metabolic conditions will be diagnosed by the use of new technologies currently available in newborn screening.

Testing and treatment for metabolic disorders is non-invasive and largely provided in an outpatient setting by the experienced treatment team based at Children’s Hospital of Orange County (CHOC). Testing includes specific metabolites in blood and/or urine (amino acids, acylcarnitines, carnitine, organic acids, mucopolysaccharides, etc.) and/or the assessment of enzyme activities.

Most treatment involves specific diets and formulas that are devoid of the metabolites that cannot be broken down in patients with metabolic disorders. Through treatment, we are able to prevent the natural course of the disease.

Clinical presentation of children with inborn metabolic diseases could be variable and non-specific, including failure to thrive, malnutrition, cyclic vomiting/dehydration, developmental delay/mental retardation or regression.

Patients are referred to our Program with unexplained or persistent:

  • Metabolic acidosis or ketosis
  • Increased lactic acid
  • Hyperammonemia
  • Abnormal liver function tests
  • Hypoglycemia
  • Neutropenia/Thrombocytopenia
  • Cataracts or Corneal opacities
  • Cardiomyopathy
  • Hepatosplenomegaly
  • Intractable seizures
  • Failure to thrive
  • Developmental delay or loss of milestones

Patients are sent to us for consultation when common work-ups based upon any of the symptoms listed above do not lead to a clear diagnosis.

Commonly treated disorders

  • Urea Cycle Disorders
  • Organic Acidurias
  • Amino Acid Disorders
  • Vitamin and Cofactor Disorders
  • Carbohydrate Metabolism Disorders
  • Fatty Acid Oxidation Disorders
  • Mitochondrial Disorders
  • Neurotransmitter Disorders
  • Lysosomal Storage Diseases
  • Peroxisomal Disorders
  • Other Inborn Errors of Metabolism: Creatine disorders, Purines & Pyrimidines disorders, Congenital Disorders of Glycosylation (CDG)

Advanced Research

There is growing interest and focus in the area of metabolic and genetic disorders. Our bench and clinical research focuses on early detection of inborn metabolic diseases using tandem mass spectrometry, new dietary treatment approaches for fatty acid oxidation defects and identification of defects in purines and pyrimides.

In-House Diagnostic Laboratory

We are in the process of validating a state of the art diagnostic laboratory for inborn errors of metabolism. Primary tests that will soon be performed by the laboratory include:

  • Organic acids
  • Amino Acids
  • Acylcarnitines
  • Carnitine (total and free)