Molecular and Genetic Medicine

Department of Pediatrics, Pediatrics Consultant and Consultant of Medical Genetics Chairmen of Newborn Screening Unite, King Fasial General Hospital, Hofuf City, Saudi Arabia

Publications

• Case Report   
  A Rare Homozygous Variant in the GALT Gene is Consistent with the Diagnosis of Duarte Type of Galactosemia: A Case Report
  Author(s): Al-Bu Ali Majed Jawad*, Al-Shaikali Mariam S, Al-Motawa Mossa N, Al-Ibraheem Adulazeem A, Al salameen Fatima A, Al-hajji Fatima M and Alagnam Amnah A
  
  Background: Galactosemia is a rare metabolic genetic disorder due to a deficiency of Galactose -1-Phosphate Uridyltransferase (GALT). The disorder usually affects many systems with acute as well as long-term consequences. Galactosemia is inherited as an autosomal recessive pattern. More than one hundred mutations have been identified, some associated with the severe clinical picture and others with benign or maybe asymptomatic. Here we presented a clinically normal infant with abnormal newborn screening and positive mutation most likely causing Duarte type of galactosemia. The prognosis of classical Galactosemia is poor with high morbidity and mortality rate while it is benign with Duarte type of galactosemia, which is related to complete or partial enzyme deficiency. Material and methods: We report a female infant of Saudi.. Read More»
  DOI: 10.37421/1747-0862.2023.17.614

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