Pyroglutamic Aciduria — a New Inborn Error of Metabolism

Abstract

A new metabolic disorder of the urea cycle is described. The patient is a 19-year-old mentally retarded male, who also has other neurological signs of cerebral damage, and suffers from episodic vomitings. Laboratory analyses revealed urinary excretion of about 30 g of pyroglutamic acid per day, a reduced urea production, and a chronic metabolic acidosis. The findings indicate a defect in one of the early steps in the urea cycle.

Key Words:

• Acidosis
• brain damage, chronic
• chromatography, gas
• gluta mates
• glutamine
• mental retardation
• pyrrolidone-2-carboxylic acid
• spectro metry, mass
• urea
• vomiting