Propionic acidemia and optic neuropathy: a report of two cases.

ABSTRACT:

Introduction

Propionic acidemia is a metabolic disease produced by a deficiency of the enzyme propionyl-CoA carboxylase. It can lead to coma, with severe neurologic encephalopathy or present later in life with vomiting, hypotonia, and seizures. An early diagnosis with adequate treatment helps to prevent the sequelae. Among the described complications is optic neuropathy, although not commonly reported, it is very disabling.

Objectives

To describe two patients with propionic acidemia and optic neuropathy.

Patients and methods

Patient 1: 16 years old, male, parents without consanguinity. He was diagnosed at 5 months of age because of hypotonia and seizures. Until the age of 9 years, he evolved satisfactorily; therefore, he stopped treatment. At 13 years, he presented bi

SUBMITTER: Arias C 

PROVIDER: S-EPMC3897799 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature