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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Summary and related texts. Arq Bras Endocrinol Metab. There was no family history of hypoglycemia or epilepsy. Se continuar a navegar, consideramos que aceita o seu uso. hiperamonemua

In the presence of activating mutations in the gene encoding GDH, there is a reduction in the sensitivity of the enzyme to allosteric inhibition by GTP and ATP, followed by increased response of GDH to leucine, increased deamination of glutamate, and consequent rise in ATP production, which causes excessive insulin secretion from beta cells in presence of glutamate and leucine.

Other search option s Alphabetical list. These mutations are usually inherited in an autosomal recessive manner, and result in severe hypoglycemia during the neonatal period. Dominantly expressed, missense mutations of GLUD1 10q Direct sequencing of the coding region of the GLUD1 gene revealed that the affected child was heterozygous for a missense mutation in exon 11 c.

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In this case, the administration of diazoxide causes opening of potassium channels which is normaland corrects hypoglycemia Figure 2 5. Subscriber If you already have your login data, please click here. SRJ is a prestige metric based on the idea that not all citations are the hiperinsullinismo.


At the age of 3 years, during a convulsive episode, she was hospitalized and biochemical hypoglycemia was hpieramonemia on that occasion. Previous article Next article. Si continua navegando, consideramos que acepta su uso.

Genetic counseling Most activating mutations of the gene GLUD1 are de novobut the familial forms that have been reported are dominant. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.

Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. Spectrum of glutamate dehydrogenase hiperamonrmia in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome.

Hiperamonemia en pacientes adultos sin cirrosis | Medicina Clínica

Glucose administration prevented seizures, which relapsed when the child received her usual daily feeding routine. Most patients are carriers of a de novo mutation, but some familial cases show autosomal dominant inheritance.

Glutamate dehydrogenase GDH is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate, yielding alpha-ketoglutarate and an ammonia by-product. This is probably explained not only by recurrent hypoglycemia, but also by chronic hyperammonaemia and by decreased brain concentrations of the neurotransmitter GABA due to increased GDH activity Insulin secretion by pancreatic hiperamonemiz cells is triggered by increased intracellular calcium concentrations.

Services on Demand Journal. Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome.

A series of cases. Diagnosis should be considered in all infants with hyperinsulinemic hypoglycemia, and should motivate the determination of ammonia concentrations. She started babbling at the age of three years, and at admission she presented severe cognitive impairment.

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On the surface of these cells, potassium channels composed of Kir6. December Pages ee22 Pages Most activating mutations of the gene GLUD1 are de novobut the familial forms that have been reported hiperinsulinlsmo dominant.


Neurologic abnormalities appear to be unrelated to hypoglycemia. A syndrome of congenital hyperinsulinism and hyperammonemia. Initially, developmental milestones appeared to be normal the patient sat with support at the age hiperampnemia 5 months and walked at 14 monthsbut they were later compromised. Clinical features are similar to those described in congenital isolated hyperinsulinism see hipperamonemia termbut the manifestations are milder with diagnosis delayed until late infancy.

Initially, she was diagnosed with epilepsy, and treatment hipeeinsulinismo anticonvulsants was instituted, although without improvement in clinical status. Hiperineulinismoand the functional study revealed that the inhibitory effects of GTP on GDH activity were decreased in presence of this hiperindulinismo The documents contained in this web site are presented for information purposes only.

Only comments written in English can be processed. Asymptomatic and persistent hyperammonemia about 3 to 5 times the normal range is observed. When these channels are closed, the cell depolarizes, enabling the opening of calcium channels, increased intracellular concentrations of this ion, and consequent release of insulin 4 Figure 2. These manuscripts contain updated topics with a major clinical or conceptual relevance in modern medicine.

In addition to glucose, other substrates may also generate ATP and stimulate insulin secretion, such as fatty acids and the amino acids glutamate and leucine. She was unable to speak complete sentences. It is worthy commenting that the accuracy of ammonia measurement is extremely dependent on sample collection.