Glutathione synthetase deficiency

December 31, 2014

Overview

Glutathione Synthetase Deficiency: An inborn error of metabolism where insufficient glutathione is produced. Glutathione is an antioxidant which helps destroy unstable molecules that can cause damage to cells and helps develop certain cell components. The condition is due to insufficient glutathione synthetase enzyme. The condition may range from mild, resulting in excessive destruction of red blood cells, to severe which includes neurological symptoms.

Symptoms

The list of signs and symptoms mentioned in various sources for Glutathione Synthetase Deficiency includes the 18 symptoms listed below: * Vomiting * Diarrhea * Abdominal pain * Kidney colic * Urinary stones * Excess urinary 5-oxoproline * Excess 5-oxoproline levels in blood * Excess 5-oxoproline levels in cerebrospinal fluid * Excess lactic acid levels in blood * Excess lactic acid levels in cerebrospinal fluid * Metabolic acidosis * Mental retardation in severe forms of the condition * Impaired muscle coordination * Cerebellar ataxia in severe forms of the condition * Seizures in severe forms of the condition * Hemolytic anemia * Increased blood acidity * Neurological problems in severe forms of the condition

Causes

* Abdominal pain * Cerebellar ataxia in severe forms of the condition * Diarrhea * Hemolytic anemia * Metabolic acidosis * Vomiting

Diagnosis

The phrase "signs of Glutathione Synthetase Deficiency" should, strictly speaking, refer only to those signs and symptoms of Glutathione Synthetase Deficiency that are not readily apparent to the patient. The word "symptoms of Glutathione Synthetase Deficiency" is the more general meaning; see symptoms of Glutathione Synthetase Deficiency. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Glutathione Synthetase Deficiency. This medical information about signs and symptoms for Glutathione Synthetase Deficiency has been gathered from various sources, may not be fully accurate, and may not be the full list of Glutathione Synthetase Deficiency signs or Glutathione Synthetase Deficiency symptoms. Furthermore, signs and symptoms of Glutathione Synthetase Deficiency may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Glutathione Synthetase Deficiency symptoms.