P-2：Molecular study on congenital hyperinsulinemia-hyperammonemia syndrome in a family

Hsin-Jung Li¹, Julia Yi-Ru Chen², Chi-Yu Huang¹, Shuan-Pei Lin^1,3, Hung-Chang Lee¹, Nien-Lu Wang⁴, Chi-Yuan Tzen⁵, Nan-Chang Chiu¹, Hsun-Hui Hsu², Geng-Chang Yeh², Yann-Jinn Lee¹^,2,3

Departments of Pediatrics¹, Medical Research³, Pediatric Surgery⁴, and Pathology⁵, Mackay Memorial Hospital, Taipei, 10449;

²Department of Pediatrics, Taipei Medical University, Taipei, 110, Taiwan

A 5-month-old infant had sudden loss of consciousness with cyanosis. The laboratory data showed low blood glucose of 20 mg/dl without electrolyte imbalance, acidosis, and urine ketone. Hypoglycemia persisted even on glucose infusion. Elevated cortisol, ammonia and insulin levels during hypoglycemia were noted and hyperinsulinemia/ hyperammonemia syndrome was suspected. Nearly total pancreadectomy was performed due to uncontrollable hypoglycemia. Genetic study showed the patient, her elder sister, her mother, elder half sister and niece had heterozygous missense mutation (R269H) in exon 7 of the glutamate dehydrogenase (GLUD1) gene (Figure). The patient's glucose levels had been within normal limits except when she had diseases with poor oral intake.

Figure The pedigree of the proband and her family. A/G, and G/G are the genotype of the GLUD1 gene at nt 978.

Mail address: 92, Chung Shan N. Rd., Sec 2, Taipei, 10449, Taiwan

           Departments of Pediatrics, Mackay Memorial Hospital, Taipei

Phone: 886-2-25433535-2483

Fax: 886-2-25433642

E-mail: dongdingkimo@yahoo.com.tw, yannlee@ms2.mmh.org.tw