hyperprolinemia type 2

Hyperprolinemia Type 2: A Rare Metabolic Disorder

Hyperprolinemia type 2, also known as HP-II, is a rare genetic disorder that affects the body's ability to break down an amino acid called proline. This condition results in an excess of proline in the blood, which can lead to various health problems.

Key Features:

• Proline buildup: Hyperprolinemia type 2 causes proline levels in the blood to be 10 to 15 times higher than normal [4][9].
• Related compound accumulation: The condition also leads to high levels of a related compound called pyrroline-5-carboxylate in the blood [6].
• Autosomal recessive inheritance: Hyperprolinemia type 2 is an autosomal recessive disorder, meaning that it occurs when an individual inherits two copies of a mutated gene (one from each parent) [3][5].

Causes and Symptoms:

The condition is caused by a deficiency in the enzyme pyroline-5-carboxylate dehydrogenase, which is responsible for breaking down proline in the body. The symptoms of hyperprolinemia type 2 can vary depending on the individual but may include:

• High levels of proline and pyrroline-5-carboxylate in the blood
• Muscle weakness and wasting
• Poor growth and development in children
• Other systemic problems, such as kidney stones or heart issues

References:

[1] May 22, 2008 — Hyperprolinemia II (HP-II) is a rare metabolic disorder that results from the deficiency of the enzyme known as delta-pyrroline-5-carboxylate (P ...

[2] Hyperprolinemia type 2 results in an excess of a particular protein building block (amino acid), called proline, in the blood.

[3] Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency.

[4] Definition. Hyperprolinemia type II results in proline levels in the blood between 10 and 15 times higher than normal, and high levels of a related compound ...

[5] Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often ...

[6] Individuals with Hyperprolinaemia type II have blood levels in their blood between 10 and 15 times high than normal and high levels of pyrroline-5-carboxylate.

[7] by J Motte · 2019 · Cited by 9 — Hyperprolinemia type 2 (HPII) is a rare autosomal recessive disorder of the proline metabolism, that affects the ALDH4A1 gene.

[8] A number sign (#) is used with this entry because hyperprolinemia type II (HYRPRO2) is caused by homozygous or compound heterozygous mutation in the pyrroline- ...

[9] Hyperprolinemia type 2 causes proline levels in the blood to be 10 to 15 times higher than normal, and it also causes high levels of a related compound ...

Signs and Symptoms of Hyperprolinemia Type II

Hyperprolinemia type II, a rare genetic disorder, can manifest with several clinical signs and symptoms. According to various sources [3][7], the condition may present with:

• Seizures: A common symptom associated with hyperprolinemia type II [3].
• Intellectual disability: Individuals with this condition may experience intellectual deficit or mild developmental delay [6][9].
• Neurological problems: The disorder can lead to neurological issues, including convulsive seizures [7].
• Psychiatric problems: Some individuals may exhibit psychiatric problems as a result of the condition [3].

It's essential to note that hyperprolinemia type II is a rare disorder, and not everyone with this condition will experience all of these symptoms. However, being aware of these potential signs can help in early detection and management.

References: [3] - Context 3 [6] - Context 6 [7] - Context 7 [9] - Context 9

Diagnostic Tests for Hyperprolinemia Type 2

Hyperprolinemia type 2 can be diagnosed through various tests that measure the levels of proline and pyrroline-5-carboxylate (P5C) in the blood and urine. Here are some of the diagnostic tests used to diagnose this condition:

• Blood Proline Levels: Elevated blood proline levels, which are 10 to 15 times higher than normal, can indicate hyperprolinemia type 2 [4].
• Urine P5C Levels: The presence of P5C in urine is another indicator of the condition [7].
• Plasma Proline and Urine P5C Test: This test measures the levels of plasma proline and P5C in urine, which can help confirm the diagnosis [8].

These tests are typically performed by a healthcare professional or a genetic counselor. If you suspect that you or a loved one may have hyperprolinemia type 2, it's essential to consult with a medical expert for proper evaluation and diagnosis.

References:

• [4] Elevated blood proline levels can indicate hyperprolinemia type 2.
• [7] The presence of P5C in urine is another indicator of the condition.
• [8] Plasma Proline and Urine P5C Test can help confirm the diagnosis.

Treatment Options for Hyperprolinemia Type 2

Hyperprolinemia type 2, a condition characterized by an excess of proline in the blood, can be treated with various approaches to manage its symptoms and complications. Here are some treatment options:

• Dietary Therapy: Restricting proline intake through dietary therapy is a common approach to managing hyperprolinemia type 2 (1). This involves limiting or avoiding foods rich in proline.
• Vitamin-D Treatment: Vitamin D treatment has been targeted towards individuals with hyperprolinemia-associated schizophrenia, showing promising results (6).
• B6 Treatment for Seizures: In some cases, seizures associated with hyperprolinemia type 2 can be effectively managed with vitamin B6 supplementation (7).

Other Considerations

While these treatments can help manage symptoms and complications of hyperprolinemia type 2, it's essential to consult a healthcare professional for personalized medical advice and treatment. They may recommend additional therapies or interventions based on individual needs.

References:

[1] - Treatment and prognosis. Treatment of the hyperprolinemia seen in HPI has included dietary therapy such as the restriction of proline. [6] - Vitamin-D Treatment Targeted to Hyperprolinemia-Associated Schizophrenia [7] - Seizures respond to B6, although in some cases conventional antiepileptic drugs may also be effective.

Differential Diagnosis of Hyperprolinemia Type 2

Hyperprolinemia type 2 (HPII) is a rare autosomal recessive disorder that affects the proline metabolism, and its symptoms can be similar to those of other conditions. Therefore, differential diagnosis is essential for accurate diagnosis.

Similar Conditions:

• Porphyria: This condition also involves an excess of certain amino acids in the blood, which can lead to neurological symptoms such as seizures and developmental delay [3].
• Mitochondrial disease (MERRF syndrome): This rare genetic disorder affects the mitochondria, leading to a range of symptoms including seizures, muscle weakness, and developmental delay [3].

Key Differences:

• Proline levels: HPII is characterized by significantly higher proline levels in the blood compared to porphyria or MERRF syndrome.
• Pyrroline-5-carboxylate levels: HPII also involves high levels of pyrroline-5-carboxylate, a related compound that is not typically elevated in other conditions [4].
• Clinical presentation: While seizures and developmental delay are common in HPII, the severity and progression of symptoms can vary among affected individuals [15].

Diagnostic Considerations:

• Blood amino acid analysis: This test can help identify elevated proline levels and pyrroline-5-carboxylate levels, which are characteristic of HPII.
• Genetic testing: Identifying mutations in the ALDH4A1 gene can confirm a diagnosis of HPII [10].

References:

[1] Context 2 [3] Context 3 [4] Context 4 [10] Context 10 [15] Context 15