Čes-slov Pediat 2023, 78(3):141-154 | DOI: 10.55095/CSPediatrie2023/019

Inherited disorders of carbohydrate metabolismKapitoly k atestaci z pediatrie

Tomáš Honzík, Jiří Zeman

Klinika pediatrie a dědičných poruch metabolismu 1. lékařské fakulty Univerzity Karlovy a Všeobecné fakultní nemocnice v Praze

Introduction: Inherited metabolic disorders (IMD) of carbohydrates represent a heterogeneous group of >250 different diseases caused by impaired synthesis, transport or degradation of galactose, fructose, glucose, disaccharides, glycogen, glycosaminoglycans and glycoproteins/glycolipids. Individual IMD of carbohydrates

are rare, but the overall incidence in the population is >1:5 000. Their diagnosis, except galactosemia in some countries is not part of laboratory neonatal screening of IMD and depends on clinical suspicion, biochemical and haematological analyses, and indication of selective metabolic screening.

Material and methods: We summarize our experiences with the clinical, diagnostic, and therapeutic aspects of the most common IMD of carbohydrates in >360 patients diagnosed at our institution.

Results: Clinical manifestations in children with IMD of carbohydrates are heterogeneous and may overlap with several diseases. The first symptoms of IMD of

galactose and fructose begin with acute manifestations of liver failure with impaired renal tubular functions and Fanconi syndrome. Most liver glycogenoses (GSD) begin with hepatomegaly, growth failure, attacks of hypoglycaemia after 2.5-3 hours of fasting, hepatopathy, dyslipidaemia and lactic

Keywords: inherited disorders of carbohydrate metabolism, galactosemia, hereditary fructose intolerance, glycogenoses, mucopolysaccharidoses, congenital disorders of glycosylation

Accepted: June 22, 2023; Prepublished online: June 22, 2023; Published: June 23, 2023  Show citation