Hyperinsulinism-hyperammonemia syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Hyperinsulinism-hyperammonemia syndrome | |||
| synonyms = HI/HA syndrome | |||
| field = [[Endocrinology]] | |||
| symptoms = [[Hypoglycemia]], elevated [[ammonia]] levels | |||
| complications = [[Seizures]], [[developmental delay]] | |||
| onset = [[Neonatal]] | |||
| duration = Chronic | |||
| causes = [[Genetic mutation]] in the [[GLUD1]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Blood test]]s, [[genetic testing]] | |||
| differential = [[Congenital hyperinsulinism]], other causes of hypoglycemia | |||
| treatment = [[Diazoxide]], [[dietary management]] | |||
| medication = [[Diazoxide]], [[octreotide]] | |||
| frequency = Rare | |||
}} | |||
'''Hyperinsulinism-hyperammonemia syndrome''' ('''HI/HA syndrome''') is a rare genetic disorder characterized by the combination of [[hyperinsulinism]] and elevated levels of [[ammonia]] in the blood. This condition is typically diagnosed in infancy or early childhood and can lead to severe hypoglycemia and neurological complications if not properly managed. | '''Hyperinsulinism-hyperammonemia syndrome''' ('''HI/HA syndrome''') is a rare genetic disorder characterized by the combination of [[hyperinsulinism]] and elevated levels of [[ammonia]] in the blood. This condition is typically diagnosed in infancy or early childhood and can lead to severe hypoglycemia and neurological complications if not properly managed. | ||
== Etiology == | == Etiology == | ||
HI/HA syndrome is caused by mutations in the [[GLUD1]] gene, which encodes the enzyme [[glutamate dehydrogenase]]. This enzyme plays a crucial role in the regulation of insulin secretion and ammonia metabolism. Mutations in the GLUD1 gene lead to an overactive enzyme, resulting in excessive insulin release and elevated ammonia levels. | HI/HA syndrome is caused by mutations in the [[GLUD1]] gene, which encodes the enzyme [[glutamate dehydrogenase]]. This enzyme plays a crucial role in the regulation of insulin secretion and ammonia metabolism. Mutations in the GLUD1 gene lead to an overactive enzyme, resulting in excessive insulin release and elevated ammonia levels. | ||
== Clinical Features == | == Clinical Features == | ||
The primary clinical features of HI/HA syndrome include: | The primary clinical features of HI/HA syndrome include: | ||
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* Developmental delay | * Developmental delay | ||
* Poor feeding and growth | * Poor feeding and growth | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of HI/HA syndrome involves a combination of clinical evaluation, laboratory tests, and genetic testing. Key diagnostic criteria include: | Diagnosis of HI/HA syndrome involves a combination of clinical evaluation, laboratory tests, and genetic testing. Key diagnostic criteria include: | ||
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* Elevated plasma ammonia levels | * Elevated plasma ammonia levels | ||
* Identification of mutations in the GLUD1 gene through genetic testing | * Identification of mutations in the GLUD1 gene through genetic testing | ||
== Management == | == Management == | ||
Management of HI/HA syndrome focuses on controlling hypoglycemia and hyperammonemia. Treatment strategies include: | Management of HI/HA syndrome focuses on controlling hypoglycemia and hyperammonemia. Treatment strategies include: | ||
| Line 24: | Line 37: | ||
* Use of [[ammonia scavengers]] to lower blood ammonia levels | * Use of [[ammonia scavengers]] to lower blood ammonia levels | ||
* Dietary modifications to manage protein intake | * Dietary modifications to manage protein intake | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with HI/HA syndrome varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and appropriate management are crucial for preventing severe hypoglycemia and minimizing neurological complications. | The prognosis for individuals with HI/HA syndrome varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and appropriate management are crucial for preventing severe hypoglycemia and minimizing neurological complications. | ||
== Related Pages == | == Related Pages == | ||
* [[Hyperinsulinism]] | * [[Hyperinsulinism]] | ||
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* [[Hypoglycemia]] | * [[Hypoglycemia]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Endocrine diseases]] | [[Category:Endocrine diseases]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
{{No image}} | |||
Latest revision as of 05:04, 4 April 2025
| Hyperinsulinism-hyperammonemia syndrome | |
|---|---|
| Synonyms | HI/HA syndrome |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Hypoglycemia, elevated ammonia levels |
| Complications | Seizures, developmental delay |
| Onset | Neonatal |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation in the GLUD1 gene |
| Risks | Family history of the condition |
| Diagnosis | Blood tests, genetic testing |
| Differential diagnosis | Congenital hyperinsulinism, other causes of hypoglycemia |
| Prevention | N/A |
| Treatment | Diazoxide, dietary management |
| Medication | Diazoxide, octreotide |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | N/A |
Hyperinsulinism-hyperammonemia syndrome (HI/HA syndrome) is a rare genetic disorder characterized by the combination of hyperinsulinism and elevated levels of ammonia in the blood. This condition is typically diagnosed in infancy or early childhood and can lead to severe hypoglycemia and neurological complications if not properly managed.
Etiology[edit]
HI/HA syndrome is caused by mutations in the GLUD1 gene, which encodes the enzyme glutamate dehydrogenase. This enzyme plays a crucial role in the regulation of insulin secretion and ammonia metabolism. Mutations in the GLUD1 gene lead to an overactive enzyme, resulting in excessive insulin release and elevated ammonia levels.
Clinical Features[edit]
The primary clinical features of HI/HA syndrome include:
- Persistent hypoglycemia due to excessive insulin secretion
- Elevated blood ammonia levels (hyperammonemia)
- Seizures
- Developmental delay
- Poor feeding and growth
Diagnosis[edit]
Diagnosis of HI/HA syndrome involves a combination of clinical evaluation, laboratory tests, and genetic testing. Key diagnostic criteria include:
- Persistent hypoglycemia with inappropriately high insulin levels
- Elevated plasma ammonia levels
- Identification of mutations in the GLUD1 gene through genetic testing
Management[edit]
Management of HI/HA syndrome focuses on controlling hypoglycemia and hyperammonemia. Treatment strategies include:
- Frequent feeding or continuous enteral feeding to prevent hypoglycemia
- Administration of medications such as diazoxide to reduce insulin secretion
- Use of ammonia scavengers to lower blood ammonia levels
- Dietary modifications to manage protein intake
Prognosis[edit]
The prognosis for individuals with HI/HA syndrome varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and appropriate management are crucial for preventing severe hypoglycemia and minimizing neurological complications.
Related Pages[edit]
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