About Hyperphenylalaninemia due to DNAJC12 deficiency

What is Hyperphenylalaninemi Due to DNAJC12 deficiency?

Hyperphenylalaninemia due to DNAJC12 deficiency is a rare genetic disorder caused by mutations in the DNAJC12 gene. It is characterized by an elevated level of the amino acid phenylalanine in the blood, which can lead to intellectual disability, seizures, and other neurological problems. Treatment typically involves a low-phenylalanine diet and supplementation with other essential amino acids.

What are the symptoms of Hyperphenylalaninemi Due to DNAJC12 deficiency?

The symptoms of Hyperphenylalaninemia due to DNAJC12 deficiency can vary from person to person, but may include:

-Developmental delay
-Seizures
-Intellectual disability
-Movement disorders
-Behavioral problems
-Feeding difficulties
-Growth delays
-Hypotonia
-Speech delays
-Sleep disturbances
-Autism spectrum disorder
-Gastrointestinal problems
-Skin rashes
-Hearing loss
-Vision problems

What are the causes of Hyperphenylalaninemi Due to DNAJC12 deficiency?

Hyperphenylalaninemia due to DNAJC12 deficiency is caused by mutations in the DNAJC12 gene. These mutations lead to a deficiency in the DNAJC12 protein, which is responsible for transporting phenylalanine into the cell. This deficiency results in an accumulation of phenylalanine in the blood, leading to hyperphenylalaninemia.

What are the treatments for Hyperphenylalaninemi Due to DNAJC12 deficiency?

1. Dietary treatment: A low-phenylalanine diet is the mainstay of treatment for Hyperphenylalaninemia due to DNAJC12 deficiency. This diet should be tailored to the individual patient and should be monitored by a dietitian.

2. Supplementation: Supplementation with tetrahydrobiopterin (BH4) is recommended for patients with Hyperphenylalaninemia due to DNAJC12 deficiency. BH4 helps to reduce the levels of phenylalanine in the blood.

3. Medication: Medications such as sapropterin dihydrochloride (Kuvan) may be prescribed to help reduce the levels of phenylalanine in the blood.

4. Gene therapy: Gene therapy is a potential treatment option for Hyperphenylalaninemia due to DNA

What are the risk factors for Hyperphenylalaninemi Due to DNAJC12 deficiency?

1. Family history of Hyperphenylalaninemia due to DNAJC12 deficiency
2. Maternal exposure to certain medications during pregnancy
3. Genetic mutations in the DNAJC12 gene
4. Low levels of the enzyme phenylalanine hydroxylase
5. Low levels of the cofactor tetrahydrobiopterin (BH4)
6. Low levels of the amino acid tyrosine in the blood
7. Low levels of the amino acid tryptophan in the blood
8. Low levels of the amino acid methionine in the blood
9. Low levels of the amino acid cysteine in the blood
10. Low levels of the amino acid histidine in the blood

Is there a cure/medications for Hyperphenylalaninemi Due to DNAJC12 deficiency?

At this time, there is no cure for Hyperphenylalaninemia due to DNAJC12 deficiency. However, there are medications available to help manage the symptoms. These medications include BH4 (tetrahydrobiopterin), which helps to reduce the levels of phenylalanine in the blood, and dietary supplements such as L-carnitine and L-arginine, which can help to reduce the symptoms of the disorder. Additionally, a low-phenylalanine diet is recommended to help manage the condition.