Pyroglutamic aciduria

Introduction: Pyroglutamic aciduria

Description of Pyroglutamic aciduria

Pyroglutamic aciduria (medical condition): 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.

See also:

Glutathione Synthetase Deficiency:
  »Introduction: Glutathione Synthetase Deficiency
  »Symptoms of Glutathione Synthetase Deficiency

Pyroglutamic aciduria: Related Topics

These medical condition or symptom topics may be relevant to medical information for Pyroglutamic aciduria:

• Aciduria

Pyroglutamic aciduria: Rare Disease

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Pyroglutamic aciduria as a "rare disease".

Source - Orphanet

Pyroglutamic aciduria as a Disease

Pyroglutamic aciduria: Another name for Glutathione Synthetase Deficiency (or close medical condition association).
  »Introduction: Glutathione Synthetase Deficiency
  »Symptoms of Glutathione Synthetase Deficiency

Symptoms of Pyroglutamic aciduria (Glutathione Synthetase Deficiency)

Some of the symptoms of Pyroglutamic aciduria incude:

• Vomiting
• Diarrhea
• Abdominal pain
• Kidney colic
• Urinary stones

See full list of 18 symptoms of Pyroglutamic aciduria (Glutathione Synthetase Deficiency)

Pyroglutamic aciduria: Related Disease Topics

These medical disease topics may be related to Pyroglutamic aciduria:

• autosomal recessive disorder
• metabolic disorder
• metabolic acidosis
• mild glutathione defieincy
• psychomotor retardation
• mental retardation
• haemolytic anmeia

Terms associated with Pyroglutamic aciduria:

Terms Similar to Pyroglutamic aciduria:

• Glutathione synthase deficiency
• 5-Oxoprolinaemia
• 5-Oxoprolinemia
• 5-Oxoprolinuria

Source: Diseases Database

External links related to: Pyroglutamic aciduria

• OMIM - GLUTATHIONE SYNTHETASE DEFICIENCY
• eMedicine - Glutathione Synthetase Deficiency : Article by Darius J Adams, MD
• NORD - National Organization for Rare Disorders, Inc.
• OMIM - GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO

Source: Diseases Database

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