Later, the same mutation of GLUD1 was detected in both herfather and brother too.
📌 3 Key Takeaways
🎯
Objective & Hypothesis:Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a rare disorderpresented with recurrent hypoglycemia and elevated serum ammonia, whichmay lead to development delays, permanent neurologic damages, if it remainsunderdiagnosed.
📊
Key Findings & Data:It is caused by activating mutations in the GLUD1 gene whichencodes the intra-mitochondrial enzyme glutamate dehydrogenase (GDH).HI/HA syndrome is considered the second most common form ofhyperinsulinism (HI), and usually associated with epileptic seizures, mentalretardation and generalized dystonia.We reported a patient who was diagnosed as HI/HA with multiple episodesof seizures; and previously had been diagnosed and treated for epilepsy.
💡
Conclusion & Impact:Later, the same mutation of GLUD1 was detected in both herfather and brother too.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a rare disorderpresented with recurrent hypoglycemia and elevated serum ammonia, whichmay lead to development delays, permanent neurologic damages, if it remainsunderdiagnosed. It is caused by activating mutations in the GLUD1 gene whichencodes the intra-mitochondrial enzyme glutamate dehydrogenase (GDH).HI/HA syndrome is considered the second most common form ofhyperinsulinism (HI), and usually associated with epileptic seizures, mentalretardation and generalized dystonia.We reported a patient who was diagnosed as HI/HA with multiple episodesof seizures; and previously had been diagnosed and treated for epilepsy. Shehas heterozygous mutation in GLUD1 gene. Treatment with diazoxide enabledcomplete resolution of the seizures.One year later, when her brother was six months old, he was also diagnosedwith HI/HA. Later, the same mutation of GLUD1 was detected in both herfather and brother too.
🔖
Cite This Article
ALANAY, Y., AKA, S., SEMİZ, S., BOODHANSİNGH, K. E., STANLEY, C. A. (2022). Seizures and diagnostic difficulties in hyperinsulinism- hyperammonemia syndrome. Turkish Journal of Pediatrics, Cilt: 58 - Sayı: 5, 541–544. https://ajindex.com/articles/654527
Stanley CA, Lieu YK, Hsu BY, et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl Med 1998; 338: 1352-1357
Palladino AA, Stanley CA. The hyperinsulinism/ hyperammonemia syndrome. Rev Endocr Metab Disord 2010; 11: 171-178
Weinzimer SA, Stanley CA, Berry GT, Yudkoff M, Tuchman M,Thornton PS. A syndrome of congenital hyperinsulinism and hyperammonemia. J Pediatr 1997; 130: 661-664
Giurgea I, Bellanne-Chantelot C, Ribeiro M, et al. Molecular mechanisms of neonatal hyperinsulinism. Horm Res 2006; 66: 289-296
Kelly A, Ng D, Ferry RJ Jr, et al. Acute insulin responses to leucine in children with the hyperinsulinism/ hyperammonemia syndrome. J Clin Endocrinol Metab 2001; 86: 3724-3728
Hsu BY, Kelly A, Thornton PS, Greenberg CR, Dilling LA, Stanley CA. Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/ hyperammonemia syndrome. J Pediatr 2001; 138: 383-389
Treberg JR, Clow KA, Greene KA, Brosnan ME, Brosnan JT. Systemic activation of glutamate dehydrogenase increases renal ammoniagenesis: implications for the hyperinsulinism/ hyperammonemia syndrome. Am J Physiol Endocrinol Metab 2010; 298: E1219
Kapoor RR, Flanagan SE, Fulton P, et al. Hyperinsulinismhyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. Eur J Endocrinol 2009; 161: 731-735
Stanley CA. Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase. Neurochem Int 2011; 59: 465-472
Bahi-Buisson N, Roze E, Dionisi C, et al. Neurological aspects of hyperinsulinism-hyperammonaemia syndrome. Dev Med Child Neurol 2008; 50: 945-949.