Abstract

AYMERICH DE FRANCHESCI, Clara Mª et al. Large liver, polyphagia and hipertransaminasemia. Rev Pediatr Aten Primaria [online]. 2021, vol.23, n.89, pp.95-97.  Epub May 09, 2022. ISSN 1139-7632.

Glycogenesis is a rare metabolic disease caused by a carbohydrate metabolism disorder. There are multiple variants depending on the enzyme involved. Type 9 is produced by a deficiency of glycogen defoforilase-kinase in the liver and is characterized by the presence of hepatomegaly, hypertransaminasemia and hypoglycemia during fasting. We describe the case of a 10-month-old girl whose guiding symptoms were abdominal distention and hyperphagia. The diagnosis of glycogenosis was confirmed by genetic study, observing a mutation in the PHKG2 gene, compatible with the diagnosis of type 9C glycogen storage disease. Symptomatic treatment was established, avoiding fasting and increasing the intake of slowly absorbing carbohydrates, with good clinical evolution.

Keywords : Glycogenosis; Hepatomegaly; Hyperphagia; Hypertransaminasemia; Hypoglycemia.

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