Cardiomyopathy Resulting From Primary Hyperoxaluria Type II

Bilateral nephrocalcinosis in primary hyperoxaluria type 1

A 31-year-old male presented with recurrent renal stones from the age of 12 years and renal failure secondary to nephrolithiasis on hemodialysis for the past 6 years. He had been born of a consanguineous union and one out of his five siblings also had a history of renal failure secondary to nephrolithiasis. He had moderate anemia. Abdominal X-ray showed bilateral nephrocalcinosis with multiple ...

Primary Hyperoxaluria

Primary hyperoxalurias are rare recessive inherited inborn errors of glyoxylate metabolism. They are responsible for progressive renal involvement, which further lead to systemic oxalate deposition, which can even occur in infants. Primary hyperoxaluria type 1 is the most common form in Europe and is due to alanine-glyoxylate aminostransferase deficiency, a hepatic peroxisomal pyridoxin-depende...

Primary hyperoxaluria

Pituitary macroadenoma resulting from primary hypothyroidism: A16-year-old girl

Background: Primary hypothyroidism is a common medical condition. It can lead to pituitary adenoma which is usually asymptomatic, but it can also lead to symptomatic macroadenomas which are hard to diagnose due to different clinical presentations. Case presentation: A 16-year-old girl presented for endocrinology consultation prior to neurosurgical operation. She had galactorrhea which was acco...

The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.

Primary hyperoxaluria type II (PH2) is a rare monogenic disorder that is characterized by a lack of the enzyme that catalyzes the reduction of hydroxypyruvate to D-glycerate, the reduction of glyoxylate to glycolate and the oxidation of D-glycerate to hydroxypyruvate. The disease is characterized by an elevated urinary excretion of oxalate and L-glycerate. The increased oxalate excretion can ca...