Co-Occurring Atypical Galactosemia and Wilson Disease.

ABSTRACT:

Introduction

Classic galactosemia is a disorder of the galactose metabolism and is inherited as an autosomal recessive disease. It is caused by a complete or severe deficiency of galactose-1-phosphate uridyltransferase (GALT), and in rare cases, atypical galactosemia can manifest at older ages. Wilson disease (WD) is a disorder of the copper metabolism that, like galactosemia, is inherited as an autosomal recessive disease. Hepatic, neurological, or psychiatric symptoms can be seen, independently or in combination, and symptoms vary from family to family. We present here a patient diagnosed with both WD and galactosemia.

Case presentation

A 6-year-old girl was referred to our center with elevated transaminase levels and hepatosplenomegaly. The child, birthweight of 2,200 g,

SUBMITTER: Dogulu N 

PROVIDER: S-EPMC9801321 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature