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Slovenska pediatrija 2014; 21: 106-112

https://doi.org/

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TREATMENT OF CONGENITAL METABOLIC DISEASE: AN EXAMPLE OF NUTRITIONAL AND ENZYMATIC TREATMENT

M. Žerjav Tanšek
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

N. Bratanič
Klinični oddelek za endokrinologijo, diabetes in bolezni presnove, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana

N. Bratina
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

P. Kotnik
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

T. Battelino
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Abstract

Glycogen storage disease type Ia and mucopolysaccharidosis type II are rare diseases with very different therapeutic approaches. Current therapy for the glycogen storage disease is focused upon the correction of biochemical abnormalities with the dietary interventions. Mucopolysaccharidosis is treated with enzyme re-placement therapy. The chronic nature and the complexity of the both diseases is indicating a well organized team of the pediatricians and nursing stuff to reach the treatment goals.

Key words: glycogen storage disease type Ia, mucopolysaccharidosis type II, therapy.