How Is Primary Hyperoxaluria Type 1

In primary hyperoxaluria type 1 (PH1), there is a deficiency of the enzyme alanine:glyoxylate aminotransferase (AGT), which is involved in the metabolism of glyoxylate. Glyoxylate is a precursor to oxalate, and when AGT is deficient, glyoxylate accumulates and is converted to oxalate. Oxalate is then excreted in the urine, where it can form crystals and lead to kidney damage and other health problems.

PH1 is an autosomal recessive disorder, meaning that both copies of the AGT gene must be mutated in order for the condition to develop. Mutations in the AGT gene can result in a complete or partial deficiency of AGT activity. The severity of the condition can vary depending on the specific mutations that are present.

PH1 is a rare condition, with an estimated prevalence of 1 in 125,000 people. It is most commonly diagnosed in childhood, but it can also develop in adults.

Symptoms of PH1 can include:

* Kidney stones

* Kidney failure

* Nephrocalcinosis (deposits of calcium oxalate crystals in the kidneys)

* Bone pain

* Muscle weakness

* Fatigue

* Nausea

* Vomiting

* Abdominal pain

Treatment for PH1 typically involves a combination of medications and dietary changes aimed at reducing oxalate levels in the urine. Medications may include:

* Pyridoxine (vitamin B6)

* Potassium citrate

* Calcium citrate

* Magnesium citrate

* Allopurinol

Dietary changes may include:

* Reducing the intake of oxalate-rich foods, such as spinach, rhubarb, beets, chocolate, and nuts

* Increasing the intake of calcium-rich foods, such as milk, yogurt, and cheese

* Drinking plenty of fluids

In severe cases of PH1, kidney transplantation may be necessary.

With early diagnosis and treatment, most people with PH1 can lead normal, healthy lives.