Professional
Technical
IVT
aminoacidopathy
Pronunciation: uh-MEE-noh-ass-ih-DOP-uh-thee
A group of inherited metabolic disorders affecting amino acid processing, commonly detected through newborn screening programs.
Full Definition
Aminoacidopathies are genetic disorders that impair the body's ability to break down specific amino acids, leading to toxic accumulations. These conditions, including maple syrup urine disease and homocystinuria, are identified through tandem mass spectrometry screening of dried blood spots. Early detection allows for dietary interventions and medical management that can prevent intellectual disability and other serious complications.
Usage
Usage note: Often confused with organic acidurias; ensure correct classification in screening reports.
In Context
- "The laboratory confirmed an aminoacidopathy requiring immediate dietary protein restriction." — Clinical report
- "Aminoacidopathies represent approximately 15% of conditions identified through expanded newborn screening." — Medical journal
Also known as
amino acid disorder
amino acid metabolism defect
Don't confuse with
organic aciduria
fatty acid oxidation disorder