Hyperprolinemia type 2

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Kemas kini Tarikh 11/05/2020 . 2 minit bacaan
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Definition

What is hyperprolinemia type 2?

Two types of hyperprolinemia are recognized by physicians and clinical researchers. Each represents an inherited inborn error of metabolism involving the amino acid, proline.

Hyperprolinemia Type I (HP-I) is characterized by high levels of proline in the blood resulting from a deficiency of the enzyme proline oxidase, which is key to the breakdown (metabolism) of proline. There are often no clinical manifestations of HP-1.

Hyperprolinemia Type II (HP-II) results in more severe clinical manifestations than are seen in HP-I, and may be associated with mild mental retardation and seizures.

How common is hyperprolinemia type 2?

Hyperprolinemia type 2 is rare. It affects males and females in equal numbers. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of hyperprolinemia type 2?

The common symptoms of hyperprolinemia type 2 are:

  • Autosomal recessive inheritance
  • Elevated urinary hydroxyproline
  • High urine glycine levels
  • Mental deficiency

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes hyperprolinemia type 2?

Hyperprolinemia II (HP-II) is a rare metabolic disorder that results from the deficiency of the enzyme known as delta-pyrroline-5-carboxylate (P-5-C) dehydrogenase.

Risk factors

What increases my risk for hyperprolinemia type 2?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is hyperprolinemia type 2 diagnosed?

HP-II is recognized by elevated blood proline and elevated P-5-C levels in the urine. (Normal blood proline levels are about 450 units whereas elevated blood proline levels in subjects with HP-II reach 1900-2000 units.)

How is hyperprolinemia type 2 treated?

There is no specific treatment for hyperprolinemia type 2, even for those individuals who experience seizures. In general, if people with hyperprolinemia type 2 have symptoms, they are usually mild and do not require treatment. If seizures are present during childhood, they tend to disappear in adulthood. Attempts to reduce the amount of proline in an affected person’s diet have resulted in only modest control of proline levels in the blood and have not reduced symptoms.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage hyperprolinemia type 2?

Please discuss with your doctor for further information.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Hello Health Group tidak memberikan nasihat perubatan, diagnosis atau rawatan.

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