The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.

ABSTRACT:

Background

Glutaric acidemia type I (GA1) is an organic acidemia that is often unrecognized in the newborn period until patients suffer an acute encephalopathic crisis, which can be mistaken for nonaccidental trauma. Presymptomatic identification of GA1 patients is possible by newborn screening (NBS). However, the biochemical "low-excretor" (LE) phenotype with nearly normal levels of disease metabolites can be overlooked, which may result in untreated disease and irreversible neurological sequelae. The LE phenotype is also a potential source of false negative (FN) NBS results that merits further investigation.

Methods

Samples from six LE GA1 patients were analyzed by biochemical and molecular methods and newborn screen outcomes were retrospectively investigated.

Results</

SUBMITTER: Guenzel AJ 

PROVIDER: S-EPMC8260482 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature