Phosphoserine aminotransferase deficiency diagnosed by whole-exome sequencing and LC-MS/MS reanalysis: A case report and review of literature.

ABSTRACT:

Background

Phosphoserine aminotransferase deficiency (PSATD) is an autosomal recessive disorder associated with hypertonia, psychomotor retardation, and acquired microcephaly. Patients with PSATD have low concentrations of serine in plasma and cerebrospinal fluid.

Methods

We reported a 2-year-old female child with developmental delay, dyskinesia, and microcephaly. LC-MS/MS was used to detect amino acid concentration in the blood and whole-exome sequencing (WES) was used to identify the variants. PolyPhen-2 web server and PyMol were used to predict the pathogenicity and changes in the 3D model molecular structure of protein caused by variants.

Results

WES demonstrated compound heterozygous variants in PSAT1, which is associated with PSATD, with a paternal likely pathog

SUBMITTER: Li J 

PROVIDER: S-EPMC10976427 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature