Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal recessive kidney stone disease caused by deficiency of the peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT), which is involved in glyoxylate detoxification. Over 75 different missense mutations in AGT have been found associated with PH1. While some of the mutations have been found to affect enzyme activity, stability, and/or lo...

An 18-year-old male presented to the emergency department of Khoo Teck Puat Hospital with knee pain and swelling while playing basketball. He was unable to bear weight. He had a surgical history of combined liver and kidney transplant 3 years ago. What do the radiographs of the left knee (Figs. 1A and 1B) and previous skeletal survey radiographs (Figs. 2A and 2B) show? What is the diagnosis? A....

A 55-year-old woman with extensive retinal crystalline deposition secondary to primary hyperoxaluria presented with bilateral loss of vision secondary to oxalate retinopathy. Enhanced depth imaging optical coherence tomography revealed intraretinal, subretinal, and intraretinal and subretinal pigment epithelium, and choroidal focal hyperreflective structures consistent with both neurosensory an...

Enteric hyperoxaluria, a complication of jejuno-ileal bypass, is associated with renal failure owing to oxalate nephrosis or tubulo-interstitial nephritis. A 54 year old woman developed renal failure 17 months after jejuno-ileal bypass for morbid obesity. Renal biopsy showed widespread acute on chronic damage to the tubulo-interstitial compartment with extensive deposition of oxalate crystals. ...