Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA.

ABSTRACT:

Objectives

The objective of this open-label study was primarily to assess the effect of taurine on adaptive behavior and secondarily to collect safety and tolerability data in patients with succinic semialdehyde dehydrogenase deficiency.

Methods

In the current study, subjects were titrated weekly from a starting dose of 50 mg/kg/d to a target 200 mg/kg/d, and assessed for safety, tolerability, and adaptive functioning using age-normalized Adaptive Behavior Assessment Scales.

Results

Eighteen patients (8 males/10 females, aged 0.5-28 years, mean 12 years) were recruited. Three subjects withdrew because of perceived lack of efficacy. One serious adverse event occurred (hospitalization for hypersomnia) on 16 g/d (200 mg/kg/d), leading to a dose-lowering paradigm with a m

SUBMITTER: Pearl PL 

PROVIDER: S-EPMC3963004 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature