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.