A novel homozygous SLC39A14 variant in an infant with hypermanganesemia and a review of the literature.

ABSTRACT:

Background

Manganese (Mn) is an essential trace metal necessary for good health; however, excessive amounts in the body are neurotoxic. To date, three genes (SLC30A10, SLC39A8, and SLC39A14) have been discovered to cause inborn errors in Mn metabolism in humans. As very rare diseases, the clinical features require further clarification.

Methods

A male Chinese patient who mainly presented with hypermanganesemia and progressive parkinsonism-dystonia was recruited for this study. We collected and analyzed clinical information, performed whole-exome sequencing (WES), and reviewed the relevant literature.

Results

The motor-developmental milestones of the patient were delayed at the age of 4 months, followed by rapidly progressive dystonia. The patient

SUBMITTER: Zhang M 

PROVIDER: S-EPMC9886663 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature