Understanding Primary Hyperoxaluria
Primary hyperoxaluria (PH) refers to a rare genetic disorder that affects the metabolism of oxalate, a compound found in many foods. This condition results from the overproduction of oxalate in the liver, leading to the formation of kidney stones, damage to the kidneys, and other organs in the body.
There are three types of primary hyperoxaluria, each with different genetic mutations and varying symptoms. PH1 is the most common type, accounting for about 80% of cases. PH2 and PH3 are less frequent, but they can also cause severe health problems.
- PH1: This type of primary hyperoxaluria is caused by a deficiency of the liver enzyme alanine-glyoxylate aminotransferase (AGT), which is essential for converting glyoxylate to glycine. Without this enzyme, glyoxylate accumulates and is converted into oxalate, leading to the formation of kidney stones.
- PH2: This type of primary hyperoxaluria is caused by a deficiency of the liver enzyme glyoxylate reductase/hydroxypyruvate reductase (GR/HPR), which is essential for converting glyoxylate to glycolate. Without this enzyme, glyoxylate accumulates and is converted into oxalate, leading to the formation of kidney stones.
- PH3: This type of primary hyperoxaluria is caused by a mutation in the HOGA1 gene, which encodes for the enzyme 4-hydroxy-2-oxoglutarate aldolase. This enzyme is involved in the metabolism of hydroxyproline, an amino acid found in collagen. Without this enzyme, hydroxyproline accumulates and is converted into oxalate, leading to the formation of kidney stones.
Primary hyperoxaluria is a chronic condition that requires lifelong management. Early diagnosis and treatment are essential to prevent kidney damage and other complications. If you or someone you know has symptoms of primary hyperoxaluria, talk to your doctor about getting tested for this condition.
Symptoms of Primary Hyperoxaluria
Symptoms of primary hyperoxaluria can vary depending on the type and severity of the condition. The most common symptoms include:
- Kidney stones
- Blood in the urine
- Pain in the back or side
- Frequent urination
- Urinary tract infections
- Chronic kidney disease
Treatment of Primary hyperoxaluria:
Primary Hyperoxaluria: Treatment Options
Primary hyperoxaluria is a rare genetic condition that causes the overproduction of oxalate, a substance that can form crystals and cause damage to various organs in the body. While there is no cure for primary hyperoxaluria, there are treatment options available to manage the symptoms and prevent further damage.Here are some of the treatm...
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