D-bifunctional protein deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = D-bifunctional protein deficiency | |||
| synonyms = [[Peroxisomal bifunctional enzyme deficiency]], [[DBP deficiency]] | |||
| image = | |||
| caption = | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Hypotonia]], [[seizures]], [[developmental delay]], [[hearing loss]], [[vision impairment]] | |||
| onset = [[Neonatal]] | |||
| duration = [[Lifelong]] | |||
| causes = Mutations in the [[HSD17B4]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[biochemical analysis]] | |||
| differential = [[Zellweger spectrum disorders]], [[Rhizomelic chondrodysplasia punctata]] | |||
| treatment = Supportive care | |||
| medication = | |||
| prognosis = Poor | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
{{Short description|A rare genetic disorder affecting peroxisomal function}} | {{Short description|A rare genetic disorder affecting peroxisomal function}} | ||
'''D-bifunctional protein deficiency''' is a rare [[genetic disorder]] that affects the normal functioning of [[peroxisomes]], which are essential cellular organelles involved in various metabolic pathways, including the breakdown of [[very long-chain fatty acids]] (VLCFAs) and the synthesis of [[plasmalogens]]. This condition is characterized by a deficiency in the D-bifunctional protein, which is crucial for the peroxisomal beta-oxidation of VLCFAs. | '''D-bifunctional protein deficiency''' is a rare [[genetic disorder]] that affects the normal functioning of [[peroxisomes]], which are essential cellular organelles involved in various metabolic pathways, including the breakdown of [[very long-chain fatty acids]] (VLCFAs) and the synthesis of [[plasmalogens]]. This condition is characterized by a deficiency in the D-bifunctional protein, which is crucial for the peroxisomal beta-oxidation of VLCFAs. | ||
==Pathophysiology== | ==Pathophysiology== | ||
D-bifunctional protein deficiency is caused by mutations in the [[HSD17B4]] gene, which encodes the D-bifunctional protein. This protein has two enzymatic activities: enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase, both of which are necessary for the beta-oxidation of VLCFAs within peroxisomes. The deficiency leads to the accumulation of VLCFAs and other toxic metabolites, resulting in cellular damage and the clinical manifestations of the disease. | D-bifunctional protein deficiency is caused by mutations in the [[HSD17B4]] gene, which encodes the D-bifunctional protein. This protein has two enzymatic activities: enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase, both of which are necessary for the beta-oxidation of VLCFAs within peroxisomes. The deficiency leads to the accumulation of VLCFAs and other toxic metabolites, resulting in cellular damage and the clinical manifestations of the disease. | ||
==Clinical Features== | ==Clinical Features== | ||
The clinical presentation of D-bifunctional protein deficiency is variable but often includes severe [[neurological symptoms]], such as [[hypotonia]], [[seizures]], and developmental delay. Other features may include [[hearing loss]], [[vision problems]], and [[liver dysfunction]]. The severity of symptoms can range from mild to severe, with some patients experiencing life-threatening complications in infancy. | The clinical presentation of D-bifunctional protein deficiency is variable but often includes severe [[neurological symptoms]], such as [[hypotonia]], [[seizures]], and developmental delay. Other features may include [[hearing loss]], [[vision problems]], and [[liver dysfunction]]. The severity of symptoms can range from mild to severe, with some patients experiencing life-threatening complications in infancy. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of D-bifunctional protein deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Biochemical tests may reveal elevated levels of VLCFAs in the blood, while genetic testing can identify mutations in the HSD17B4 gene. Additional tests, such as [[magnetic resonance imaging]] (MRI) of the brain, may be used to assess neurological involvement. | Diagnosis of D-bifunctional protein deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Biochemical tests may reveal elevated levels of VLCFAs in the blood, while genetic testing can identify mutations in the HSD17B4 gene. Additional tests, such as [[magnetic resonance imaging]] (MRI) of the brain, may be used to assess neurological involvement. | ||
==Management== | ==Management== | ||
There is currently no cure for D-bifunctional protein deficiency, and treatment is primarily supportive and symptomatic. Management strategies may include dietary modifications to reduce VLCFA intake, physical therapy to address motor deficits, and medications to control seizures. Early intervention and a multidisciplinary approach are essential to optimize patient outcomes. | There is currently no cure for D-bifunctional protein deficiency, and treatment is primarily supportive and symptomatic. Management strategies may include dietary modifications to reduce VLCFA intake, physical therapy to address motor deficits, and medications to control seizures. Early intervention and a multidisciplinary approach are essential to optimize patient outcomes. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with D-bifunctional protein deficiency varies depending on the severity of the condition. Severe forms of the disorder are often associated with significant neurological impairment and reduced life expectancy. However, milder forms may allow for a longer lifespan with appropriate management. | The prognosis for individuals with D-bifunctional protein deficiency varies depending on the severity of the condition. Severe forms of the disorder are often associated with significant neurological impairment and reduced life expectancy. However, milder forms may allow for a longer lifespan with appropriate management. | ||
==Related pages== | ==Related pages== | ||
* [[Peroxisomal disorders]] | * [[Peroxisomal disorders]] | ||
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* [[HSD17B4 gene]] | * [[HSD17B4 gene]] | ||
* [[Neurological disorders]] | * [[Neurological disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 03:56, 4 April 2025
| D-bifunctional protein deficiency | |
|---|---|
| Synonyms | Peroxisomal bifunctional enzyme deficiency, DBP deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Hypotonia, seizures, developmental delay, hearing loss, vision impairment |
| Complications | N/A |
| Onset | Neonatal |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the HSD17B4 gene |
| Risks | |
| Diagnosis | Genetic testing, biochemical analysis |
| Differential diagnosis | Zellweger spectrum disorders, Rhizomelic chondrodysplasia punctata |
| Prevention | N/A |
| Treatment | Supportive care |
| Medication | |
| Prognosis | Poor |
| Frequency | Rare |
| Deaths | |
A rare genetic disorder affecting peroxisomal function
D-bifunctional protein deficiency is a rare genetic disorder that affects the normal functioning of peroxisomes, which are essential cellular organelles involved in various metabolic pathways, including the breakdown of very long-chain fatty acids (VLCFAs) and the synthesis of plasmalogens. This condition is characterized by a deficiency in the D-bifunctional protein, which is crucial for the peroxisomal beta-oxidation of VLCFAs.
Pathophysiology[edit]
D-bifunctional protein deficiency is caused by mutations in the HSD17B4 gene, which encodes the D-bifunctional protein. This protein has two enzymatic activities: enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase, both of which are necessary for the beta-oxidation of VLCFAs within peroxisomes. The deficiency leads to the accumulation of VLCFAs and other toxic metabolites, resulting in cellular damage and the clinical manifestations of the disease.
Clinical Features[edit]
The clinical presentation of D-bifunctional protein deficiency is variable but often includes severe neurological symptoms, such as hypotonia, seizures, and developmental delay. Other features may include hearing loss, vision problems, and liver dysfunction. The severity of symptoms can range from mild to severe, with some patients experiencing life-threatening complications in infancy.
Diagnosis[edit]
Diagnosis of D-bifunctional protein deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Biochemical tests may reveal elevated levels of VLCFAs in the blood, while genetic testing can identify mutations in the HSD17B4 gene. Additional tests, such as magnetic resonance imaging (MRI) of the brain, may be used to assess neurological involvement.
Management[edit]
There is currently no cure for D-bifunctional protein deficiency, and treatment is primarily supportive and symptomatic. Management strategies may include dietary modifications to reduce VLCFA intake, physical therapy to address motor deficits, and medications to control seizures. Early intervention and a multidisciplinary approach are essential to optimize patient outcomes.
Prognosis[edit]
The prognosis for individuals with D-bifunctional protein deficiency varies depending on the severity of the condition. Severe forms of the disorder are often associated with significant neurological impairment and reduced life expectancy. However, milder forms may allow for a longer lifespan with appropriate management.
