aminoacidopathy

Full Definition

A group of genetic conditions characterized by defects in enzymes involved in amino acid breakdown or synthesis, leading to accumulation of toxic metabolites or deficiency of essential compounds. Common examples include phenylketonuria, maple syrup urine disease, and tyrosinemia. These conditions are typically detected through elevated amino acid levels in dried blood spot screening and require dietary management to prevent intellectual disability and other complications.

Usage

Usage note: Plural form is aminoacidopathies.

In Context

• "The elevated phenylalanine level suggested a possible aminoacidopathy requiring further evaluation." — Laboratory interpretation
• "Dietary protein restriction is often necessary in the management of aminoacidopathies." — Treatment guidelines