Type I hyperprolinemia.
Indian J Pediatr
;
2000 Jul; 67(7): 541-3
Article
in English
| IMSEAR
| ID: sea-78397
ABSTRACT
Type I hyperprolinemia is an autosomal recessive disorder characterized by increased plasma and urine proline concentrations due to a deficiency of the enzyme, proline oxidase. This rare inborn error of proline metabolism is generally believed to be a benign condition although many associated clinical abnormalities have been reported. We report two siblings with Type I hyperprolinemia who presented with recurrent seizures. They had elevated plasma proline levels with massive prolinuria without an increased urinary excretion of delta 1-pyrolline-carboxylic acid.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Proline Oxidase
/
Recurrence
/
Seizures
/
Female
/
Humans
/
Infant
/
Metabolism, Inborn Errors
Language:
English
Journal:
Indian J Pediatr
Year:
2000
Type:
Article
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