Metabolic Clinic

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

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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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