The molecular genetic diagnostic for the primary hyperoxalurias is done in collaboration with the Institute of Human Genetics Cologne. Mutation analysis can be performed for the currently known three genes:
- AGXT (PH I)
- GRHPR (PH II)
- HOGA1 (PH III)
Request form PH Genetics
Besim is one of these patients. He has primary hyperoxaluria type I, an ultra-rare disease of the liver, but one that first leads to kidney problems as it progresses. But, let's let Besim and his mother explain his medical history..
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