Report of five cases of protein-sensitive hypoglycemia with literature review / 中华内分泌代谢杂志

ABSTRACT

Objective To summarize the clinical feature,gene mutations,diagnosis,treatment,and follow-up data of protein-sensitive hypoglycemia,so as to improve the clinical understanding of the disease.Methods Five patients were diagnosed with protein-sensitive hypoglycemia during June in 2015 and December in 2017 from the Department of Pediatric Endocrinology and Inherited Metabolic Diseases,Children's Hospital of Fudan University.Clinical data of 5 cases were summarized,including clinical manifestations,findings of protein sensitivity test,therapy effect and prognosis.The endocrine and metabolic panel was used to investigate the genetic cause of four patients.Related literatures of protein-sensitive hypoglycemia were reviewed,and the phenotypes,genotypes,and therapy effects were summarized.Results Among the 5 patients diagnosed with positive results of protein-sensitive hypoglycemia,three were found to harbor glutamate dehydrogenase 1 (GLUD 1) mutations (c.965G ＞ A,p.R322H2 cases;c.943C ＞T,p.H315Y1 case),and another one had complex heterozygous mutations in L-3-hydroxyacyl-CoA dehydrogenase (HADH,c.29G ＞ C,p.R10P;c.89T＞ A,p.V30E).5 patients were euglycemia without any medical support after low protein diet.In 18 literatures retrieved and this study,there were totally 161 cases of protein-sensitive hypoglycemia (149 cases with GLUD1 mutations and 10 cases with HADH mutations).Conclusions When a child was admitted because of hypoglycemia,the diagnosis of protein-sensitive hypoglycemia should be suspected if he or she also had postprandial hypoglycemia,with or without hyperammonemia.Protein sensitivity test is helpful for us to make the diagnosis of protein-sensitive hypoglycemia.