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Vol. 23 - Num. 89

Clinical Reviews in Digestive Diseases

Large liver, polyphagia and hipertransaminasemia

Clara M.ª Aymerich de Franchescia, Andrea Riego Martíneza, Marta Murillo Hernándeza, Silvia Chumillas Calzadab, David Coca Robinotc, M.ª Isabel Álvarez Morad, Iván Carabaño Aguadoa, Enrique Medina Beníteza

aSección de Gastroenterología, Hepatología y Nutrición Pediátrica. Hospital Universitario 12 de Octubre. Madrid. España.
bUnidad de Enfermedades Raras. Servicio de Pediatría. Hospital Universitario 12 de Octubre. Madrid. España.
cSección de Radiología Infantil. Servicio de Radiodiagnóstico. Hospital Universitario 12 de Octubre. Madrid. España.
dServicio de Genética. Hospital Universitario 12 de Octubre. Madrid. España.

Correspondence: CM Aymerich. E-mail:

Reference of this article: Aymerich de Franchesci CM, Riego Martínez A, Murillo Hernández M, Chumillas Calzada S, Coca Robinot D, Álvarez Mora MI, et al. Large liver, polyphagia and hipertransaminasemia. Rev Pediatr Aten Primaria. 2021;23:95-7.

Published in Internet: 30-03-2021 - Visits: 147


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.


Glycogenosis Hepatomegaly Hyperphagia Hypertransaminasemia Hypoglycemia



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