O hiperinsulinismo (HI) é a causa mais comum de hipoglicemia, seja transitória ou permanente. de efeitos tóxicos da hiperamonemia nas crianças afetadas. Hipoglucemias por síndrome de hiperinsulinismo-hiperamonemia: a propósito de un caso diagnosticado en la edad adulta. Article. Dec Síndrome de hiperinsulinemia/hiperamonemia devido a uma mutação no gene da paciente de 6 anos de idade com hipoglicemia de jejum e hiperamonemia.
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Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.
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Clinical features are similar to those described in congenital isolated hyperinsulinism see this termbut the manifestations are milder with diagnosis delayed until late infancy. Hypoglycemia is triggered by fasting or a protein-rich meal leucine sensitive hypoglycemia and hiperinsuoinismo easily controlled by diazoxide. Asymptomatic and persistent hyperammonemia about 3 to 5 times the normal range is observed. Children with HIHA frequently present seizures most commonly atypical or absence and learning difficulties.
Neurologic abnormalities appear to be unrelated to hypoglycemia. Glutamate dehydrogenase GDH is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate, yielding alpha-ketoglutarate and an ammonia by-product. This in turn leads to an influx of calcium ions and the ensuing cellular depolarization triggers the secretion of insulin from pancreatic beta-cells.
Dominantly expressed, missense mutations of GLUD1 10q The role of hyperammonemia is not known; it may primarily be the result of the renal expression of altered forms of GDH. Most activating hileramonemia of the gene GLUD1 are de novohiperinsuliniemo the familial forms that have been reported are dominant.
Incomplete variance and clinical variability are noted within the same families. Other search option s Alphabetical list. Summary and related texts.
Check this box if you wish to receive a copy of your message. InfancyNeonatal ICD Summary Epidemiology Prevalence is estimated at 1 inClinical description Clinical features are similar to those described in congenital isolated hyperinsulinism see this termbut the manifestations are milder with diagnosis delayed until late infancy.
Etiology Glutamate dehydrogenase GDH is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate, yielding alpha-ketoglutarate and an ammonia by-product. Genetic counseling Most activating mutations of the gene GLUD1 are de novobut the familial forms that have been reported are dominant.
Hiperamonemia en pacientes adultos sin cirrosis | Medicina Clínica
Professionals Clinical practice guidelines English Deutsch Additional hiperinsulinixmo Further information on this disease Classification s 3 Gene s 1 Other website s 2. Health care resources for this disease Expert centres Diagnostic tests 66 Patient organisations 47 Orphan drug s 6.
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