Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

ABSTRACT:

Objective

The natural history of succinic semialdehyde dehydrogenase (SSADH) deficiency in adulthood is unknown; we elucidate the clinical manifestations of the disease later in life.

Methods

A 63-year-old man with long-standing intellectual disability was diagnosed with SSADH deficiency following hospitalization for progressive decline, escalating seizures, and prolonged periods of altered consciousness. We present a detailed review of his clinical course and reviewed our SSADH deficiency database adult cohort to derive natural history information.

Results

Of 95 patients in the database for whom age at diagnosis is recorded, there are 40 individuals currently aged 18 years or older. Only 3 patients were diagnosed after age 18 years. Of 25 adults for whom data are ava

SUBMITTER: Lapalme-Remis S 

PROVIDER: S-EPMC4560056 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature