Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children.

ABSTRACT:

Background

Hypermanganesemia with dystonia 1 and 2 (HMNDYT1 and 2) are rare, inherited disorders of manganese transport.

Objectives

We aimed to describe clinical, laboratory features, and outcomes among children with HMNDYT.

Methods

We conducted a retrospective multicenter study involving tertiary centers across India. We enrolled children between 1 month to 18 years of age with genetically confirmed/clinically probable HMNDYT. Clinical, laboratory profile, genetic testing, treatment details, and outcomes scored by treating physicians on a Likert scale were recorded.

Results

We enrolled 27 children (19 girls). Fourteen harbored SLC30A10 mutations; nine had SLC39A14 mutations. The SLC39A14 cohort had lower median age at onset (1.3 [interquar

SUBMITTER: Garg D 

PROVIDER: S-EPMC9547147 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature