Metabolic Referrals

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We specialize in the diagnosis and treatment of inborn errors of metabolism, including organic acidemias, urea cycle defects, fatty acid oxidation defects, glycogen storage disorders, lysosomal storage disorders and mitochondrial diseases among others. Many, but not all of these conditions can be detected through newborn screening programs.

A consultation is recommended when routine work-up does not lead to a clear diagnosis due to the fact that symptoms or signs of inherited metabolic disorders are frequently not specific.

Symptoms and signs:

• Failure to thrive
• Developmental delay
• Intermittent ataxia
• Intractable seizures
• Hypotonia/muscle weakness
• Chronic or cyclic vomiting
• Cardiomyopathy
• Cataracts/corneal opacities
• Family history of sudden infant death
• Hepatosplenomegaly (HSM)
• Progressive joint contractures/kyphosis
• Metabolic acidosis with high anion GAP
• Persistent ketosis
• Hypoglycemia
• Hyperammonemia
• MRI suggestive of Leigh’s disease

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)

Services offered include:

• Expert care with board-certified specialists in metabolic diseases
• Access to expert laboratory at CHOC
• Team approach with a genetic counselor, case manager, metabolic dietitian, social worker and nurse practitioner