The genetic basis of classical galactosaemia in Polish patients

Orphanet Journal of Rare Diseases

Aleksandra Jezela-Stanek¹  Anna Bauer²  Jolanta Sykut-Cegielska²  Katarzyna Wertheim-Tysarowska³  Jerzy Bal³  Agnieszka Magdalena Rygiel³ 

[1] Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland;Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland;Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland;

关键词: GALT;    Variants;    Classical galactosemia;   

DOI  :  10.1186/s13023-021-01869-3

来源: Springer

【 摘 要 】

Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis is established by detecting elevated erythrocyte galactose-1-phosphate concentration, reduced erythrocyte galactose-1-phosphate uridylyltransferase (GALT) enzyme activity. Biallelic pathogenic variants in the GALT gene is confirmed by DNA analysis. Our paper presents molecular characteristics of 195 Polish patients diagnosed with galactosemia I, intending to expand the current knowledge of this rare disease's molecular etiology. To the best of our knowledge, the described cohort of galactosemia patients is the largest single-center cohort presented so far.

【 授权许可】

CC BY