Molybdenum cofactor deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = Molybdenum cofactor deficiency | |||
| synonyms = MoCD | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Seizures]], [[developmental delay]], [[feeding difficulties]], [[neurological deterioration]] | |||
| onset = [[Neonatal]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Consanguinity]] | |||
| diagnosis = [[Genetic testing]], [[biochemical analysis]] | |||
| differential = [[Sulfite oxidase deficiency]], [[Leigh syndrome]] | |||
| treatment = [[Supportive care]], [[experimental therapies]] | |||
| prognosis = [[Poor]] | |||
| frequency = [[Rare disease]] | |||
}} | |||
{{Short description|A rare metabolic disorder affecting molybdenum cofactor synthesis}} | {{Short description|A rare metabolic disorder affecting molybdenum cofactor synthesis}} | ||
'''Molybdenum cofactor deficiency''' is a rare [[metabolic disorder]] characterized by the inability to synthesize the [[molybdenum cofactor]], a vital component for the function of certain [[enzymes]] in the body. This deficiency leads to a buildup of toxic substances and results in severe neurological damage. | '''Molybdenum cofactor deficiency''' is a rare [[metabolic disorder]] characterized by the inability to synthesize the [[molybdenum cofactor]], a vital component for the function of certain [[enzymes]] in the body. This deficiency leads to a buildup of toxic substances and results in severe neurological damage. | ||
==Pathophysiology== | ==Pathophysiology== | ||
The molybdenum cofactor is essential for the activity of several enzymes, including [[sulfite oxidase]], [[xanthine dehydrogenase]], and [[aldehyde oxidase]]. These enzymes play critical roles in the metabolism of sulfur-containing amino acids and purines. In molybdenum cofactor deficiency, the lack of functional cofactor results in the accumulation of sulfite, xanthine, and other toxic metabolites, leading to neurological damage and other systemic effects. | The molybdenum cofactor is essential for the activity of several enzymes, including [[sulfite oxidase]], [[xanthine dehydrogenase]], and [[aldehyde oxidase]]. These enzymes play critical roles in the metabolism of sulfur-containing amino acids and purines. In molybdenum cofactor deficiency, the lack of functional cofactor results in the accumulation of sulfite, xanthine, and other toxic metabolites, leading to neurological damage and other systemic effects. | ||
==Genetics== | ==Genetics== | ||
Molybdenum cofactor deficiency is an [[autosomal recessive]] disorder, meaning that an affected individual must inherit two defective copies of the gene, one from each parent. The condition is caused by mutations in one of several genes involved in the biosynthesis of the molybdenum cofactor, including [[MOCS1]], [[MOCS2]], and [[GPHN]]. | Molybdenum cofactor deficiency is an [[autosomal recessive]] disorder, meaning that an affected individual must inherit two defective copies of the gene, one from each parent. The condition is caused by mutations in one of several genes involved in the biosynthesis of the molybdenum cofactor, including [[MOCS1]], [[MOCS2]], and [[GPHN]]. | ||
==Clinical Presentation== | ==Clinical Presentation== | ||
Symptoms of molybdenum cofactor deficiency typically appear in the neonatal period or early infancy. Affected infants may present with severe [[seizures]], [[developmental delay]], poor feeding, and [[hypotonia]]. As the disease progresses, neurological deterioration continues, often leading to [[microcephaly]] and [[spasticity]]. | Symptoms of molybdenum cofactor deficiency typically appear in the neonatal period or early infancy. Affected infants may present with severe [[seizures]], [[developmental delay]], poor feeding, and [[hypotonia]]. As the disease progresses, neurological deterioration continues, often leading to [[microcephaly]] and [[spasticity]]. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of molybdenum cofactor deficiency is based on clinical presentation, biochemical testing, and genetic analysis. Elevated levels of sulfite and [[xanthine]] in the urine, along with low levels of uric acid, are indicative of the disorder. Genetic testing can confirm mutations in the genes responsible for molybdenum cofactor synthesis. | Diagnosis of molybdenum cofactor deficiency is based on clinical presentation, biochemical testing, and genetic analysis. Elevated levels of sulfite and [[xanthine]] in the urine, along with low levels of uric acid, are indicative of the disorder. Genetic testing can confirm mutations in the genes responsible for molybdenum cofactor synthesis. | ||
==Treatment== | ==Treatment== | ||
Currently, there is no cure for molybdenum cofactor deficiency. Treatment is primarily supportive and focuses on managing symptoms and preventing complications. In some cases, supplementation with cyclic pyranopterin monophosphate (cPMP), a precursor of the molybdenum cofactor, has shown promise in reducing symptoms and improving outcomes. | Currently, there is no cure for molybdenum cofactor deficiency. Treatment is primarily supportive and focuses on managing symptoms and preventing complications. In some cases, supplementation with cyclic pyranopterin monophosphate (cPMP), a precursor of the molybdenum cofactor, has shown promise in reducing symptoms and improving outcomes. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with molybdenum cofactor deficiency is generally poor, with most affected individuals experiencing severe neurological impairment and reduced life expectancy. Early diagnosis and intervention may improve quality of life and extend survival. | The prognosis for individuals with molybdenum cofactor deficiency is generally poor, with most affected individuals experiencing severe neurological impairment and reduced life expectancy. Early diagnosis and intervention may improve quality of life and extend survival. | ||
==Related pages== | ==Related pages== | ||
* [[Metabolic disorder]] | * [[Metabolic disorder]] | ||
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* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Neurological disorder]] | * [[Neurological disorder]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
Latest revision as of 06:18, 4 April 2025
| Molybdenum cofactor deficiency | |
|---|---|
| Synonyms | MoCD |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Seizures, developmental delay, feeding difficulties, neurological deterioration |
| Complications | N/A |
| Onset | Neonatal |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Consanguinity |
| Diagnosis | Genetic testing, biochemical analysis |
| Differential diagnosis | Sulfite oxidase deficiency, Leigh syndrome |
| Prevention | N/A |
| Treatment | Supportive care, experimental therapies |
| Medication | N/A |
| Prognosis | Poor |
| Frequency | Rare disease |
| Deaths | N/A |
A rare metabolic disorder affecting molybdenum cofactor synthesis
Molybdenum cofactor deficiency is a rare metabolic disorder characterized by the inability to synthesize the molybdenum cofactor, a vital component for the function of certain enzymes in the body. This deficiency leads to a buildup of toxic substances and results in severe neurological damage.
Pathophysiology[edit]
The molybdenum cofactor is essential for the activity of several enzymes, including sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. These enzymes play critical roles in the metabolism of sulfur-containing amino acids and purines. In molybdenum cofactor deficiency, the lack of functional cofactor results in the accumulation of sulfite, xanthine, and other toxic metabolites, leading to neurological damage and other systemic effects.
Genetics[edit]
Molybdenum cofactor deficiency is an autosomal recessive disorder, meaning that an affected individual must inherit two defective copies of the gene, one from each parent. The condition is caused by mutations in one of several genes involved in the biosynthesis of the molybdenum cofactor, including MOCS1, MOCS2, and GPHN.
Clinical Presentation[edit]
Symptoms of molybdenum cofactor deficiency typically appear in the neonatal period or early infancy. Affected infants may present with severe seizures, developmental delay, poor feeding, and hypotonia. As the disease progresses, neurological deterioration continues, often leading to microcephaly and spasticity.
Diagnosis[edit]
Diagnosis of molybdenum cofactor deficiency is based on clinical presentation, biochemical testing, and genetic analysis. Elevated levels of sulfite and xanthine in the urine, along with low levels of uric acid, are indicative of the disorder. Genetic testing can confirm mutations in the genes responsible for molybdenum cofactor synthesis.
Treatment[edit]
Currently, there is no cure for molybdenum cofactor deficiency. Treatment is primarily supportive and focuses on managing symptoms and preventing complications. In some cases, supplementation with cyclic pyranopterin monophosphate (cPMP), a precursor of the molybdenum cofactor, has shown promise in reducing symptoms and improving outcomes.
Prognosis[edit]
The prognosis for individuals with molybdenum cofactor deficiency is generally poor, with most affected individuals experiencing severe neurological impairment and reduced life expectancy. Early diagnosis and intervention may improve quality of life and extend survival.
