Neonatal Glycogen Storage Disease Type IA: A Rare Presentation

Title:Neonatal Glycogen Storage Disease Type IA: A Rare Presentation

Volume: 24 Issue: 16

Author(s): Joana Tenente*, Teresa Campos, Carla Vasconcelos, Helena Santos, Marisa Carvalho, Altina Ramos, Laura Vilarinho, Esmeralda Rodrigues and Elisa Leão Teles

Affiliation:

• Hospital de São João Pediatrics Department Porto Portugal

Abstract: Glucose homeostasis is essential for energy production and the central nervous system function, depending on glycogen metabolism. Glycogen storage diseases (GSD) are caused by enzymatic defects of the glycogen degradation and mainly involve the liver since the inhibition of hepatic glycogen breakdown results in its excessive storage and hepatomegaly. Other findings are hypoglycemia and hyperlactatemia and consequent neurological symptoms. GSD Type Ia is a severe disease with clinical manifestations usually occurring in the first months. Morbidity and mortality are high, when not treated. The patient was a male newborn, with nonconsanguineous couple, born by eutocic delivery and weight 3760 g. On Day 2, weight loss >10% and jaundice were noticed, and physical examination was as normal. The investigation showed low glucose that only respond to iv glucose, metabolic acidosis, hyperlactatemia and elevated liver enzymes. Considering his inherited metabolic disease, he was transferred to the Reference Center. Complementary tests showed hypertriglyceridemia and absence of ketone bodies. Abdominal US revealed a liver in the upper limit of normal. Most likely clinical diagnosis was GSD type Ia, confirmed by genetic test. He needed iv glucose, but then stabilized with formula without galactose, supplemented with dextrin every 2 hours. He is now 7 months old, has flash glucose self-monitoring system, maintaining frequent feedings, with sporadic hypoglycemia with normal physical development and no hepatomegaly. Hypoglycemia and early weight loss in newborns are red flags for metabolic diseases or other conditions. When accompanied by other metabolic findings, such as hyperlactatemia and metabolic acidosis, associated with short fasting periods, glycogen metabolism disorders must be considered. Patients with GSD Type Ia generally appear normal at birth and an early presentation is not frequent within the first hours after birth. Moreover, avoiding fasting and hypoglycemia are of vital importance for better cognitive outcome, global prognosis, and prevention of other metabolic abnormalities.

Cite this article as:

Tenente Joana*, Campos Teresa, Vasconcelos Carla, Santos Helena, Carvalho Marisa, Ramos Altina, Vilarinho Laura, Rodrigues Esmeralda and Teles Leão Elisa, Neonatal Glycogen Storage Disease Type IA: A Rare Presentation, Endocrine, Metabolic & Immune Disorders - Drug Targets 2024; 24 (16) . https://dx.doi.org/10.2174/0118715303278622231006102118