Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most common form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI). The main clinical characteristics of HI/HA syndrome are repeated episodes of symptomatic hypoglycemia, but not usually severe. Consequently, children with HI/HA syndrome are frequently not recognized in the first months of life. An 8-month-old boy was admitted to a hospital due to hypoglycemia seizures. He also had asymptomatic hyperammonemia with no signs of lethargy or headaches. Genetic testing revealed autosomal dominant syndrome, a mutation in the GLUD1 gene (p.Arg274Cys). The boy started treatment with diazoxide. Subsequent growth and neurological development were normal. Hypoglycemic symptoms in HI/HA syndrome may vary from being non specific to severe. As hypoglycemia could lead to brain injury and impairment of neurological development, timely diagnosis and management are essential. If transient hypoglycemia is ruled out, metabolic disorders must be taken into account.
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机译：高胰岛素血症-高氨血症综合征（HI / HA）是婴儿持续性高胰岛素血症性低血糖（PHHI）的第二种最常见形式。 HI / HA综合征的主要临床特征是症状性低血糖反复发作，但通常不严重。因此，HI / HA综合征患儿在出生后的头几个月常常无法被识别。一个8个月大的男孩因血糖过低发作而入院。他还患有无症状的高氨血症，没有嗜睡或头痛的迹象。基因检测显示常染色体显性遗传综合征，这是GLUD1基因的突变（p.Arg274Cys）。这个男孩开始用二氮嗪治疗。随后的生长和神经系统发育正常。 HI / HA综合征的降血糖症状可能从非特异性到严重。低血糖症可能导致脑损伤和神经系统发育障碍，因此及时诊断和管理至关重要。如果排除短暂性低血糖症，则必须考虑代谢紊乱。
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