About Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

What is Hyperphenylalaninemi Due to tetrahydrobiopterin deficiency?

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency is a rare inherited disorder caused by a deficiency of the enzyme tetrahydrobiopterin (BH4). This enzyme is necessary for the production of certain neurotransmitters, such as serotonin and dopamine. Without it, the body cannot properly break down the amino acid phenylalanine, leading to a buildup of this amino acid in the blood. Symptoms of this disorder can include intellectual disability, seizures, and behavioral problems. Treatment typically involves taking BH4 supplements and avoiding foods that are high in phenylalanine.

What are the symptoms of Hyperphenylalaninemi Due to tetrahydrobiopterin deficiency?

The symptoms of Hyperphenylalaninemia due to tetrahydrobiopterin deficiency can vary depending on the severity of the condition, but may include:

- Developmental delay

- Seizures

- Intellectual disability

- Autistic-like behaviors

- Hyperactivity

- Poor muscle tone

- Abnormal movements

- Skin rashes

- Eczema

- Abnormal sleep patterns

- Feeding difficulties

- Vomiting

- Abnormal liver function tests

- Abnormal blood tests

- Abnormal urine tests

- Abnormal eye movements

- Abnormal EEGs

- Abnormal MRI scans

What are the causes of Hyperphenylalaninemi Due to tetrahydrobiopterin deficiency?

Hyperphenylalaninemia due to tetrahydrobiopterin (BH4) deficiency is caused by mutations in the genes responsible for the production of BH4. These mutations can be inherited from a parent or can occur spontaneously. BH4 is an essential cofactor for the enzymes responsible for the conversion of phenylalanine to tyrosine. Without BH4, the enzymes cannot function properly, leading to an accumulation of phenylalanine in the blood.

What are the treatments for Hyperphenylalaninemi Due to tetrahydrobiopterin deficiency?

1. Dietary treatment: A low-phenylalanine diet is the mainstay of treatment for hyperphenylalaninemia due to tetrahydrobiopterin deficiency. This diet should be tailored to the individual patient and monitored by a dietitian.

2. Supplementation with tetrahydrobiopterin: Supplementation with tetrahydrobiopterin (BH4) is the mainstay of treatment for hyperphenylalaninemia due to tetrahydrobiopterin deficiency. BH4 is available as a synthetic form (sapropterin dihydrochloride) and is administered orally.

3. Enzyme replacement therapy: Enzyme replacement therapy with sapropterin dihydrochloride is an option for some patients with hyperphenylalaninemia due to tetrah

What are the risk factors for Hyperphenylalaninemi Due to tetrahydrobiopterin deficiency?

1. Genetic mutations in the GCH1 gene, which is responsible for the production of the enzyme GTP cyclohydrolase I.

2. Family history of Hyperphenylalaninemia due to tetrahydrobiopterin deficiency.

3. Exposure to certain environmental toxins, such as lead or mercury.

4. Certain medications, such as anticonvulsants, can increase the risk of developing Hyperphenylalaninemia due to tetrahydrobiopterin deficiency.

5. Premature birth or low birth weight.

Is there a cure/medications for Hyperphenylalaninemi Due to tetrahydrobiopterin deficiency?

Yes, there is a cure for Hyperphenylalaninemia due to tetrahydrobiopterin deficiency. The primary treatment is to supplement the patient with tetrahydrobiopterin (BH4). This can be done orally, intravenously, or intramuscularly. Additionally, medications such as sapropterin dihydrochloride (Kuvan) can be used to help the body use the BH4 more effectively. Other treatments may include dietary modifications, such as avoiding foods high in phenylalanine, and taking medications to reduce the amount of phenylalanine in the body.