Primary hyperoxaluria type 1 with a novel mutation.

[primary hyperoxaluria type 1]

Primary hyperoxaluria type 1 [PH 1 ] is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase AGT , which is encoded by the AGXT gene . We report an Indian family with two affected siblings having a novel mutation in the AGXT gene inherited from the parents . The index case progressed to end stage renal disease at 5 months of age . His 4 month old sibling is presently under follow up with preserved renal function .

Diseases
Validation

Diseases presenting "end stage renal disease" symptom

fabry disease

familial hypocalciuric hypercalcemia

primary hyperoxaluria type 1

This symptom has already been validated