Metabolic Clinic

Clinic for the treatment of inborn errors of metabolism and center for enzyme replacement therapies for lysosomal diseases.


Inborn errors of metabolism are types of complex genetic disorders that can present with a variety of symptoms and require specialized treatments. Nicklaus Children’s has established a specialized clinic through the Division of Genetics and Metabolism devoted to addressing these conditions. Our multidisciplinary team includes multiple board-certified biochemical and clinical geneticists experienced with inborn errors of metabolism, a metabolic dietitian and a group of medical assistants knowledgeable in working with insurance and obtaining authorizations.

Metabolic Conditions Include: 

  • Abnormal Newborn Screenings
  • Amino Acid Metabolism Disorders
  • Carbohydrate Disorders (such as Galactosemia and Glycogen Storage Disorders)
  • Fatty Acid Oxidation Disorders
  • Lysosomal Storage Disorders
  • Mitochondrial Disorders
  • Organic Acidemias
  • Urea Cycle Disorders

Who is a Candidate for the Clinic?

Candidates for the clinic have one of the following characteristics or circumstances:
  • Confirmed diagnosis of an inborn error of metabolism
  • High clinical concern for an inborn error of metabolism
  • Abnormal newborn screen
  • Multisystemic involvement and abnormal neuroimaging suspicious for a metabolic/mitochondrial condition
  • Requiring test coordination after a close relative has been diagnosed with an inborn error of metabolism

How to Get Started

If you want to make an appointment for a child, or if you are a physician seeking to refer a patient to the Metabolic Clinic, please call 786-624-4741.

To reach Genetics and Metabolism in the case of an emergency after normal business hours, patients and healthcare practitioners should call 305-666-6511 (available 24/7) and ask to be connected to Nicklaus Children's Pediatric Specialist Genetics on-call doctor. Metabolic emergencies may include high ammonia, metabolic acidosis, abnormal newborn screening and pregnancy in patients with phenylketonuria or other inborn metabolic disorders.

To request to transfer a patient who is an inpatient at another hospital, please contact Nicklaus Children’s Division of Genetics & Metabolism 786-624-4717.

About the Metabolic Clinic

This clinic takes place two Thursdays per month. As part of the clinic, specialists will perform an initial evaluation including a detailed history, physical exam and discuss diagnostic biochemical and genetic testing. Based on the evaluation, or the patient's diagnosis, management and treatment recommendations will then be discussed and implemented.

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