Phosphoglucomutase deficiency type 1

Overview

Phosphoglucomutase deficiency: An enzyme (phosphoglucomutase) deficiency which causes metabolic problems.

Symptoms

* Phosphoglucomutase deficiency * Vomiting * Lethargy * Poor weight gain * Metabolic acidosis * Nonketotic dicarboxylic aciduria * Low serum carnitine levels * Low muscle carnitine levels

Causes

Phosphoglucomutase deficiency

Treatment

The list of treatments mentioned in various sources for Phosphoglucomutase deficiency includes the following list. Always seek professional medical advice about any treatment or change in treatment plans. * Carnitine administration