Intermediate
Formal
IVT
metabolic specialist
A physician with expertise in diagnosing and managing inborn errors of metabolism.
Full Definition
Board-certified physicians, typically pediatric subspecialists, who specialize in the diagnosis, treatment, and management of genetic metabolic disorders. These specialists coordinate confirmatory testing, interpret complex biochemical results, and develop treatment plans for children with confirmed metabolic conditions identified through newborn screening.
Usage
Usage note: Distinguish from general geneticists who may not have metabolic subspecialty training.
In Context
- "Urgent referral to a metabolic specialist is required within 24 hours." — Critical result notification
- "The metabolic specialist confirmed the diagnosis and initiated enzyme replacement therapy." — Follow-up care summary
Also known as
biochemical geneticist
metabolic physician
Don't confuse with
genetic counselor
endocrinologist