Description

Pyroglutamic acidemia and aciduria (5-oxoprolinuria) may be caused by a range of conditions.


Hereditary conditions associated with pyroglutamic acidemia and aciduria:

(1) glutathione synthetase deficiency (GSD)

(2) 5-oxoprolinase deficiency

(3) other enzyme deficiencies in the gamma-glutamyl cycle

(4) neonatal urea cycle defect

(5) tyrosinemia type I

(6) propionic acidemia

(7) methylmalonic acidemia

 

Acquiredconditions associated with pyroglutamic acidemia and aciduria:

(1) malnutrition (with depletion of body stores of glutathione)

(2) Stevens-Johnson syndrome

(3) extreme prematurity

(4) sepsis

(5) liver or renal failure

(6) pregnancy

(7) alcohol abuse

 

Drug-related:

(1) acetaminophen (especially at high doses)

(2) vigabatrin

(3) flucloxacillin

(4) netilmicin


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