Severe galactosemia of type 1 in a premature baby: difficulties of differential diagnosis

Nikitina, I. V.; Амелин, И. М.; Махмудов, И. Ш.; Крог-Йенсен, О. А.; Тумасян, Е. А.; Ленюшкина, А А; Дегтярева, А. В.; Дегтярев, Д Н

doi:10.21508/1027-4065-2020-65-5-73-82

Ross. vestn. perinatol. pediatr.

2020

DOI: 10.21508/1027-4065-2020-65-5-73-82

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Severe galactosemia of type 1 in a premature baby: difficulties of differential diagnosis

I. V. Nikitina

И. М. Амелин

И. Ш. Махмудов

et al.

Abstract: Г алактоземия-генетически обусловленное заболевание, связанное с нарушением обмена углеводов, при котором в организме накапливается избы-ток галактозы и ее метаболитов (галактозо-1-фосфата и галактитола). Тип наследования заболеванияаутосомно-рецессивный [1].

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Liver damage in galactosemia type I: a literary review

Gudkov,

Fedina,

Dmitriev

et al. 2024

ECG

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Galactosemia is a rare hereditary disease associated with impaired galactose metabolism, which is characterized by a wide range of clinical syndromes. Most long-term observations are devoted to the study of neurological, ophthalmological and reproductive disorders. Liver damage in galactosemia is one of the central manifestations of the disease, determining the severity and prognosis of the disease, mainly in the neonatal period. The lack of timely dietary correction in the neonatal period leads to severe liver damage with the development of cirrhosis, portal hypertension and liver failure. An information search has shown that prolonged and catamnestic studies on the condition of the liver in children with various variants of galactosemia, in particular, against the background of dietary correction, are few. Most studies show significant reversibility of hepatopathy on the background of diet (even with severe manifestation), however, the number of such publications is not large and the issue requires further research.

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Liver damage in galactosemia type I: a literary review

Gudkov,

Fedina,

Dmitriev

et al. 2024

ECG

View full text Add to dashboard Cite

show abstract

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Severe galactosemia of type 1 in a premature baby: difficulties of differential diagnosis

Cited by 1 publication

References 20 publications

Liver damage in galactosemia type I: a literary review

Liver damage in galactosemia type I: a literary review

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