Hyperlysinemia

Overview

Hyperlysinemia is an autosomal recessive metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign. It can be associated with saccharopine dehydrogenase.

Symptoms

* Vomiting * Increased blood ammonia levels * Abdominal pain * Diarrhea * Dehydration

Causes

* 14q+ syndrome * 18p minus syndrome * 1q deletion * 2-Hydroxyglutaricaciduria * 2-methylbutyryl