Tetrahydrobiopterin deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = Tetrahydrobiopterin deficiency | |||
| image = [[File:(6R)-Tetrahydrobiopterin_structure.svg|200px]] | |||
| caption = Chemical structure of [[Tetrahydrobiopterin]] | |||
| synonyms = BH4 deficiency | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Intellectual disability]], [[seizures]], [[movement disorders]], [[hyperphenylalaninemia]] | |||
| complications = [[Neurological damage]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Blood test]], [[urine test]], [[genetic testing]] | |||
| differential = [[Phenylketonuria]], [[Dihydropteridine reductase deficiency]] | |||
| prevention = [[Genetic counseling]] | |||
| treatment = [[Dietary management]], [[BH4 supplementation]], [[neurotransmitter precursors]] | |||
| medication = [[Sapropterin]], [[L-dopa]], [[5-HTP]] | |||
| prognosis = Variable, depends on early diagnosis and treatment | |||
| frequency = Rare | |||
}} | |||
[[File:autorecessive.svg|Autosomal Recessive Inheritance Pattern|thumb|left]] | |||
'''Tetrahydrobiopterin deficiency''' (also known as '''BH4 deficiency''') is a rare inherited disorder that increases the levels of several substances, including phenylalanine, in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If untreated, this condition can lead to intellectual disability and other serious health problems. | '''Tetrahydrobiopterin deficiency''' (also known as '''BH4 deficiency''') is a rare inherited disorder that increases the levels of several substances, including phenylalanine, in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If untreated, this condition can lead to intellectual disability and other serious health problems. | ||
== Signs and Symptoms == | == Signs and Symptoms == | ||
The signs and symptoms of tetrahydrobiopterin deficiency can vary widely. Newborns with this disorder appear healthy at birth, but medical problems ranging from mild to severe can become apparent over time. These problems can include [[intellectual disability]], [[movement disorders]], difficulty swallowing, [[seizures]], behavioral problems, and progressive problems with development. | The signs and symptoms of tetrahydrobiopterin deficiency can vary widely. Newborns with this disorder appear healthy at birth, but medical problems ranging from mild to severe can become apparent over time. These problems can include [[intellectual disability]], [[movement disorders]], difficulty swallowing, [[seizures]], behavioral problems, and progressive problems with development. | ||
== Causes == | == Causes == | ||
Tetrahydrobiopterin deficiency is caused by mutations in the [[GCH1]], [[PCBD1]], [[PTS]], or [[QDPR]] gene. These genes provide instructions for making enzymes that are involved in the production of a molecule called [[tetrahydrobiopterin]] (BH4). BH4 helps convert several amino acids, including phenylalanine, to other essential molecules in the body. It is also involved in the production of neurotransmitters, which transmit signals between nerve cells in the brain. | Tetrahydrobiopterin deficiency is caused by mutations in the [[GCH1]], [[PCBD1]], [[PTS]], or [[QDPR]] gene. These genes provide instructions for making enzymes that are involved in the production of a molecule called [[tetrahydrobiopterin]] (BH4). BH4 helps convert several amino acids, including phenylalanine, to other essential molecules in the body. It is also involved in the production of neurotransmitters, which transmit signals between nerve cells in the brain. | ||
== Diagnosis == | == Diagnosis == | ||
Tetrahydrobiopterin deficiency is diagnosed through newborn screening tests. These tests measure the amount of phenylalanine in a baby's blood. If the levels are too high, additional tests are done to determine if it is due to a BH4 deficiency or another condition called [[phenylketonuria]] (PKU). | Tetrahydrobiopterin deficiency is diagnosed through newborn screening tests. These tests measure the amount of phenylalanine in a baby's blood. If the levels are too high, additional tests are done to determine if it is due to a BH4 deficiency or another condition called [[phenylketonuria]] (PKU). | ||
== Treatment == | == Treatment == | ||
The treatment for tetrahydrobiopterin deficiency is lifelong and involves a diet low in phenylalanine. This includes a special medical formula and carefully chosen foods. Some individuals may also need to take BH4 supplements or other medications to help their body use BH4 more effectively. | The treatment for tetrahydrobiopterin deficiency is lifelong and involves a diet low in phenylalanine. This includes a special medical formula and carefully chosen foods. Some individuals may also need to take BH4 supplements or other medications to help their body use BH4 more effectively. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with tetrahydrobiopterin deficiency varies. With early diagnosis and treatment, many individuals can lead healthy lives. However, without treatment, this disorder can lead to severe intellectual disability and other health problems. | The prognosis for individuals with tetrahydrobiopterin deficiency varies. With early diagnosis and treatment, many individuals can lead healthy lives. However, without treatment, this disorder can lead to severe intellectual disability and other health problems. | ||
== See Also == | == See Also == | ||
* [[Phenylketonuria]] | * [[Phenylketonuria]] | ||
* [[Amino acid]] | * [[Amino acid]] | ||
* [[Neurotransmitter]] | * [[Neurotransmitter]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 14:39, 9 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Tetrahydrobiopterin deficiency | |
|---|---|
-Tetrahydrobiopterin_structure.svg)
| |
| Synonyms | BH4 deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Intellectual disability, seizures, movement disorders, hyperphenylalaninemia |
| Complications | Neurological damage |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Blood test, urine test, genetic testing |
| Differential diagnosis | Phenylketonuria, Dihydropteridine reductase deficiency |
| Prevention | Genetic counseling |
| Treatment | Dietary management, BH4 supplementation, neurotransmitter precursors |
| Medication | Sapropterin, L-dopa, 5-HTP |
| Prognosis | Variable, depends on early diagnosis and treatment |
| Frequency | Rare |
| Deaths | N/A |
Tetrahydrobiopterin deficiency (also known as BH4 deficiency) is a rare inherited disorder that increases the levels of several substances, including phenylalanine, in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If untreated, this condition can lead to intellectual disability and other serious health problems.
Signs and Symptoms[edit]
The signs and symptoms of tetrahydrobiopterin deficiency can vary widely. Newborns with this disorder appear healthy at birth, but medical problems ranging from mild to severe can become apparent over time. These problems can include intellectual disability, movement disorders, difficulty swallowing, seizures, behavioral problems, and progressive problems with development.
Causes[edit]
Tetrahydrobiopterin deficiency is caused by mutations in the GCH1, PCBD1, PTS, or QDPR gene. These genes provide instructions for making enzymes that are involved in the production of a molecule called tetrahydrobiopterin (BH4). BH4 helps convert several amino acids, including phenylalanine, to other essential molecules in the body. It is also involved in the production of neurotransmitters, which transmit signals between nerve cells in the brain.
Diagnosis[edit]
Tetrahydrobiopterin deficiency is diagnosed through newborn screening tests. These tests measure the amount of phenylalanine in a baby's blood. If the levels are too high, additional tests are done to determine if it is due to a BH4 deficiency or another condition called phenylketonuria (PKU).
Treatment[edit]
The treatment for tetrahydrobiopterin deficiency is lifelong and involves a diet low in phenylalanine. This includes a special medical formula and carefully chosen foods. Some individuals may also need to take BH4 supplements or other medications to help their body use BH4 more effectively.
Prognosis[edit]
The prognosis for individuals with tetrahydrobiopterin deficiency varies. With early diagnosis and treatment, many individuals can lead healthy lives. However, without treatment, this disorder can lead to severe intellectual disability and other health problems.
