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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 Martínezb, Marta Murillo Hernándezb, Silvia Chumillas Calzadac, David Coca Robinotd, M.ª Isabel Álvarez Morae, Iván Carabaño Aguadof, Enrique Medina Benítezf

aSección de Gastroenterología, Hepatología y Nutrición Pediátrica. Hospital Universitario 12 de Octubre. Madrid. España.
bMIR-Pediatría. Hospital Universitario 12 de Octubre. Madrid. España.
cUnidad de Enfermedades Raras. Servicio de Pediatría. Hospital Universitario 12 de Octubre. Madrid. España.
dSección de Radiología Infantil. Servicio de Radiodiagnóstico. Hospital Universitario 12 de Octubre. Madrid. España.
eServicio de Genética. Hospital Universitario 12 de Octubre. Madrid. España.
fSección de Gastroenterología, Hepatología y Nutrición Pediátrica. Servicio de Pediatría. Hospital Universitario 12 de Octubre. Madrid. España.

Correspondence: CM Aymerich. E-mail: claraymerich@gmail.com

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: 1313

Abstract

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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