Corrêa-Giannella Maria Lúcia, Freire Daniel Soares, Cavaleiro Ana Mercedes, Fortes Maria Angela Zanella, Giorgi Ricardo Rodrigues, Pereira Maria Adelaide Albergaria
Laboratório de Endocrinologia Celular e Molecular, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.
Arq Bras Endocrinol Metabol. 2012 Nov;56(8):485-9. doi: 10.1590/s0004-27302012000800004.
The hyperinsulinism/hyperammonemia (HI/HA) syndrome is a rare autosomal dominant disease manifested by hypoglycemic symptoms triggered by fasting or high-protein meals, and by elevated serum ammonia. HI/HA is the second most common cause of hyperinsulinemic hypoglycemia of infancy, and it is caused by activating mutations in GLUD1, the gene that encodes mitochondrial enzyme glutamate dehydrogenase (GDH). Biochemical evaluation, as well as direct sequencing of exons and exon-intron boundary regions of the GLUD1 gene, were performed in a 6-year old female patient presenting fasting hypoglycemia and hyperammonemia. The patient was found to be heterozygous for one de novo missense mutation (c.1491A>G; p.Il497Met) previously reported in a Japanese patient. Treatment with diazoxide 100 mg/day promoted complete resolution of the hypoglycemic episodes.
高胰岛素血症/高氨血症（HI/HA）综合征是一种罕见的常染色体显性疾病，表现为禁食或高蛋白饮食引发的低血糖症状以及血清氨升高。HI/HA是婴儿期高胰岛素性低血糖的第二大常见病因，由编码线粒体酶谷氨酸脱氢酶（GDH）的基因GLUD1中的激活突变引起。对一名出现禁食低血糖和高氨血症的6岁女性患者进行了生化评估以及GLUD1基因外显子和外显子-内含子边界区域的直接测序。发现该患者对于先前在一名日本患者中报道的一个新发错义突变（c.1491A>G；p.Il497Met）为杂合子。每日100毫克二氮嗪治疗促使低血糖发作完全缓解。
