Iminoglycinuria

Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.

Hyperprolinemia

An increased concentration of proline in the blood.


Total: 3

                       


(per page)
PMID (PMCID)
11510941
 MALE Infant
Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance.
Humbertclaude V, Rivier F, Roubertie A, Echenne B, Bellet H, Vallat C, Morin D.
J Child Neurol. 2001;16(8):622-3.
Hyperprolinemia type I is a deficiency of proline oxidase (McKusick 23950), leading to hyperprolinemia and iminoglycinuria, usually with renal involvement.
11510941
 MALE Infant
Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance.
Humbertclaude V, Rivier F, Roubertie A, Echenne B, Bellet H, Vallat C, Morin D.
J Child Neurol. 2001;16(8):622-3.
Hyperprolinemia type I is a deficiency of proline oxidase (McKusick 23950), leading to hyperprolinemia and iminoglycinuria, usually with renal involvement.
8135609
 MIXED_SAMPLE Adult
[Coffin-Lowry syndrome and hyperprolinemia].
Lacombe D, Parrot-Roulaud F, Castell JF, Serville F, Hehunstre JP, Battin J.
Arch Fr Pediatr. 1993;50(6):489-92.
Amino-acid chromatography showed hyperprolinemia (732 mumol/l) plus iminoglycinuria.