MPI-CDG: Difference between revisions
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== MPI-CDG | {{SI}} | ||
{{Infobox medical condition | |||
[[ | | name = MPI-CDG | ||
| image = [[File:Mannose_structure.svg|150px]] | |||
| caption = Structure of [[mannose]], a sugar involved in MPI-CDG | |||
| synonyms = [[Congenital disorder of glycosylation type Ib]] | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Hypoglycemia]], [[protein-losing enteropathy]], [[liver fibrosis]], [[coagulopathy]] | |||
| onset = [[Infancy]] | |||
| duration = [[Chronic]] | |||
| causes = Mutations in the [[MPI (gene)|MPI gene]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[blood test]] | |||
| differential = Other [[congenital disorders of glycosylation]] | |||
| prevention = | |||
| treatment = [[Mannose]] supplementation | |||
| medication = | |||
| prognosis = Variable, can be improved with treatment | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''MPI-CDG''', also known as '''Mannose Phosphate Isomerase Congenital Disorder of Glycosylation''', is a rare [[genetic disorder]] that affects the process of [[glycosylation]], which is the attachment of sugars to proteins and lipids. This disorder is part of a larger group of conditions known as [[Congenital Disorders of Glycosylation]] (CDG). | '''MPI-CDG''', also known as '''Mannose Phosphate Isomerase Congenital Disorder of Glycosylation''', is a rare [[genetic disorder]] that affects the process of [[glycosylation]], which is the attachment of sugars to proteins and lipids. This disorder is part of a larger group of conditions known as [[Congenital Disorders of Glycosylation]] (CDG). | ||
=== Pathophysiology === | === Pathophysiology === | ||
MPI-CDG is caused by mutations in the [[MPI gene]], which encodes the enzyme [[mannose phosphate isomerase]]. This enzyme is crucial for the conversion of [[mannose-6-phosphate]] to [[fructose-6-phosphate]], a key step in the [[glycolysis]] and [[glycosylation]] pathways. The deficiency of mannose phosphate isomerase leads to an accumulation of mannose-6-phosphate and a shortage of mannose-1-phosphate, disrupting normal glycosylation processes. | MPI-CDG is caused by mutations in the [[MPI gene]], which encodes the enzyme [[mannose phosphate isomerase]]. This enzyme is crucial for the conversion of [[mannose-6-phosphate]] to [[fructose-6-phosphate]], a key step in the [[glycolysis]] and [[glycosylation]] pathways. The deficiency of mannose phosphate isomerase leads to an accumulation of mannose-6-phosphate and a shortage of mannose-1-phosphate, disrupting normal glycosylation processes. | ||
=== Clinical Features === | === Clinical Features === | ||
Patients with MPI-CDG typically present with a range of symptoms, which may include: | Patients with MPI-CDG typically present with a range of symptoms, which may include: | ||
* [[Failure to thrive]] | * [[Failure to thrive]] | ||
* [[Hepatomegaly]] | * [[Hepatomegaly]] | ||
| Line 18: | Line 31: | ||
* [[Coagulopathy]] | * [[Coagulopathy]] | ||
* [[Gastrointestinal issues]] | * [[Gastrointestinal issues]] | ||
The severity of symptoms can vary widely among affected individuals. | The severity of symptoms can vary widely among affected individuals. | ||
=== Diagnosis === | === Diagnosis === | ||
Diagnosis of MPI-CDG involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Biochemical tests may reveal abnormal glycosylation patterns, while genetic testing can confirm mutations in the MPI gene. | Diagnosis of MPI-CDG involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Biochemical tests may reveal abnormal glycosylation patterns, while genetic testing can confirm mutations in the MPI gene. | ||
=== Treatment === | === Treatment === | ||
Treatment for MPI-CDG is primarily supportive and symptomatic. Dietary supplementation with [[mannose]] has been shown to improve symptoms in some patients, as it can bypass the metabolic block caused by the enzyme deficiency. | Treatment for MPI-CDG is primarily supportive and symptomatic. Dietary supplementation with [[mannose]] has been shown to improve symptoms in some patients, as it can bypass the metabolic block caused by the enzyme deficiency. | ||
=== Prognosis === | === Prognosis === | ||
The prognosis for individuals with MPI-CDG varies depending on the severity of the condition and the response to treatment. Early diagnosis and management can improve outcomes and quality of life. | The prognosis for individuals with MPI-CDG varies depending on the severity of the condition and the response to treatment. Early diagnosis and management can improve outcomes and quality of life. | ||
== See also == | |||
== | |||
* [[Congenital Disorders of Glycosylation]] | * [[Congenital Disorders of Glycosylation]] | ||
* [[Glycosylation]] | * [[Glycosylation]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
Latest revision as of 03:54, 8 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
| MPI-CDG | |
|---|---|
| |
| Synonyms | Congenital disorder of glycosylation type Ib |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Hypoglycemia, protein-losing enteropathy, liver fibrosis, coagulopathy |
| Complications | N/A |
| Onset | Infancy |
| Duration | Chronic |
| Types | N/A |
| Causes | Mutations in the MPI gene |
| Risks | |
| Diagnosis | Genetic testing, blood test |
| Differential diagnosis | Other congenital disorders of glycosylation |
| Prevention | |
| Treatment | Mannose supplementation |
| Medication | |
| Prognosis | Variable, can be improved with treatment |
| Frequency | Rare |
| Deaths | |
MPI-CDG, also known as Mannose Phosphate Isomerase Congenital Disorder of Glycosylation, is a rare genetic disorder that affects the process of glycosylation, which is the attachment of sugars to proteins and lipids. This disorder is part of a larger group of conditions known as Congenital Disorders of Glycosylation (CDG).
Pathophysiology[edit]
MPI-CDG is caused by mutations in the MPI gene, which encodes the enzyme mannose phosphate isomerase. This enzyme is crucial for the conversion of mannose-6-phosphate to fructose-6-phosphate, a key step in the glycolysis and glycosylation pathways. The deficiency of mannose phosphate isomerase leads to an accumulation of mannose-6-phosphate and a shortage of mannose-1-phosphate, disrupting normal glycosylation processes.
Clinical Features[edit]
Patients with MPI-CDG typically present with a range of symptoms, which may include:
The severity of symptoms can vary widely among affected individuals.
Diagnosis[edit]
Diagnosis of MPI-CDG involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Biochemical tests may reveal abnormal glycosylation patterns, while genetic testing can confirm mutations in the MPI gene.
Treatment[edit]
Treatment for MPI-CDG is primarily supportive and symptomatic. Dietary supplementation with mannose has been shown to improve symptoms in some patients, as it can bypass the metabolic block caused by the enzyme deficiency.
Prognosis[edit]
The prognosis for individuals with MPI-CDG varies depending on the severity of the condition and the response to treatment. Early diagnosis and management can improve outcomes and quality of life.
