Multiple carboxylase deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = Multiple carboxylase deficiency | |||
| synonyms = MCD | |||
| field = [[Endocrinology]], [[Genetics]] | |||
| symptoms = [[Lethargy]], [[seizures]], [[hypotonia]], [[skin rash]], [[alopecia]] | |||
| onset = Neonatal or late-onset | |||
| duration = Lifelong | |||
| causes = [[Biotinidase deficiency]], [[Holocarboxylase synthetase deficiency]] | |||
| risks = Genetic inheritance | |||
| diagnosis = [[Blood test]], [[urine organic acid analysis]] | |||
| differential = [[Biotin deficiency]], [[Organic acidemia]] | |||
| treatment = [[Biotin]] supplementation | |||
| prognosis = Good with treatment | |||
| frequency = Rare | |||
}} | |||
'''Multiple carboxylase deficiency''' ('''MCD''') is a rare [[metabolic disorder]] that affects the body's ability to metabolize certain proteins and fats. It is characterized by a deficiency of the enzymes [[biotinidase]] and [[holocarboxylase synthetase]], which are necessary for the body to use the vitamin [[biotin]]. This deficiency can lead to a variety of symptoms, including skin rash, hair loss, seizures, developmental delay, and potentially life-threatening complications such as [[metabolic acidosis]] and [[coma]]. | '''Multiple carboxylase deficiency''' ('''MCD''') is a rare [[metabolic disorder]] that affects the body's ability to metabolize certain proteins and fats. It is characterized by a deficiency of the enzymes [[biotinidase]] and [[holocarboxylase synthetase]], which are necessary for the body to use the vitamin [[biotin]]. This deficiency can lead to a variety of symptoms, including skin rash, hair loss, seizures, developmental delay, and potentially life-threatening complications such as [[metabolic acidosis]] and [[coma]]. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The symptoms of MCD can vary widely, but they typically begin in infancy or early childhood. They may include: | The symptoms of MCD can vary widely, but they typically begin in infancy or early childhood. They may include: | ||
* [[Skin rash]] | * [[Skin rash]] | ||
* [[Hair loss]] | * [[Hair loss]] | ||
| Line 12: | Line 26: | ||
* [[Metabolic acidosis]] (a buildup of acid in the body) | * [[Metabolic acidosis]] (a buildup of acid in the body) | ||
* [[Coma]] | * [[Coma]] | ||
== Causes == | == Causes == | ||
MCD is caused by mutations in the [[BTD]] gene, which provides instructions for making the enzyme biotinidase, or the [[HLCS]] gene, which provides instructions for making the enzyme holocarboxylase synthetase. These enzymes are necessary for the body to use the vitamin biotin. Without enough of these enzymes, the body cannot properly metabolize certain proteins and fats. | MCD is caused by mutations in the [[BTD]] gene, which provides instructions for making the enzyme biotinidase, or the [[HLCS]] gene, which provides instructions for making the enzyme holocarboxylase synthetase. These enzymes are necessary for the body to use the vitamin biotin. Without enough of these enzymes, the body cannot properly metabolize certain proteins and fats. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of MCD is typically made through a combination of clinical examination, laboratory testing, and genetic testing. Laboratory tests may include blood and urine tests to check for elevated levels of certain substances that can indicate a problem with biotin metabolism. Genetic testing can confirm a diagnosis by identifying mutations in the BTD or HLCS genes. | Diagnosis of MCD is typically made through a combination of clinical examination, laboratory testing, and genetic testing. Laboratory tests may include blood and urine tests to check for elevated levels of certain substances that can indicate a problem with biotin metabolism. Genetic testing can confirm a diagnosis by identifying mutations in the BTD or HLCS genes. | ||
== Treatment == | == Treatment == | ||
Treatment for MCD typically involves lifelong supplementation with biotin. This can help to replace the missing enzymes and allow the body to properly metabolize proteins and fats. In some cases, dietary modifications may also be necessary. | Treatment for MCD typically involves lifelong supplementation with biotin. This can help to replace the missing enzymes and allow the body to properly metabolize proteins and fats. In some cases, dietary modifications may also be necessary. | ||
== Prognosis == | == Prognosis == | ||
With early diagnosis and treatment, individuals with MCD can often lead normal, healthy lives. However, if left untreated, the condition can lead to serious, potentially life-threatening complications. | With early diagnosis and treatment, individuals with MCD can often lead normal, healthy lives. However, if left untreated, the condition can lead to serious, potentially life-threatening complications. | ||
== See also == | == See also == | ||
* [[Biotinidase deficiency]] | * [[Biotinidase deficiency]] | ||
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* [[Metabolic disorder]] | * [[Metabolic disorder]] | ||
* [[Inborn errors of metabolism]] | * [[Inborn errors of metabolism]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic diseases]] | [[Category:Genetic diseases]] | ||
{{stub}} | {{stub}} | ||
{{dictionary-stub1}} | {{dictionary-stub1}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 04:31, 4 April 2025
| Multiple carboxylase deficiency | |
|---|---|
| Synonyms | MCD |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Lethargy, seizures, hypotonia, skin rash, alopecia |
| Complications | N/A |
| Onset | Neonatal or late-onset |
| Duration | Lifelong |
| Types | N/A |
| Causes | Biotinidase deficiency, Holocarboxylase synthetase deficiency |
| Risks | Genetic inheritance |
| Diagnosis | Blood test, urine organic acid analysis |
| Differential diagnosis | Biotin deficiency, Organic acidemia |
| Prevention | N/A |
| Treatment | Biotin supplementation |
| Medication | N/A |
| Prognosis | Good with treatment |
| Frequency | Rare |
| Deaths | N/A |
Multiple carboxylase deficiency (MCD) is a rare metabolic disorder that affects the body's ability to metabolize certain proteins and fats. It is characterized by a deficiency of the enzymes biotinidase and holocarboxylase synthetase, which are necessary for the body to use the vitamin biotin. This deficiency can lead to a variety of symptoms, including skin rash, hair loss, seizures, developmental delay, and potentially life-threatening complications such as metabolic acidosis and coma.
Symptoms and Signs[edit]
The symptoms of MCD can vary widely, but they typically begin in infancy or early childhood. They may include:
- Skin rash
- Hair loss
- Seizures
- Developmental delay
- Ataxia (lack of muscle control or coordination)
- Hypotonia (low muscle tone)
- Metabolic acidosis (a buildup of acid in the body)
- Coma
Causes[edit]
MCD is caused by mutations in the BTD gene, which provides instructions for making the enzyme biotinidase, or the HLCS gene, which provides instructions for making the enzyme holocarboxylase synthetase. These enzymes are necessary for the body to use the vitamin biotin. Without enough of these enzymes, the body cannot properly metabolize certain proteins and fats.
Diagnosis[edit]
Diagnosis of MCD is typically made through a combination of clinical examination, laboratory testing, and genetic testing. Laboratory tests may include blood and urine tests to check for elevated levels of certain substances that can indicate a problem with biotin metabolism. Genetic testing can confirm a diagnosis by identifying mutations in the BTD or HLCS genes.
Treatment[edit]
Treatment for MCD typically involves lifelong supplementation with biotin. This can help to replace the missing enzymes and allow the body to properly metabolize proteins and fats. In some cases, dietary modifications may also be necessary.
Prognosis[edit]
With early diagnosis and treatment, individuals with MCD can often lead normal, healthy lives. However, if left untreated, the condition can lead to serious, potentially life-threatening complications.
