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 origin product of consanguineous marriage (double consanguinity) With abnormal low (GALT) in repeated newborn screening tests through Dried Blood Spot (DBS) which is consistence with a genetics variant discovered by Whole Exome Sequence (WES).
Result: The constellation of clinical presentation and biochemical findings confirmed by Molecular genetics investigations showed a rare homozygous variant c.940A>G p.(Asn314Asp) in the GALT gene (OMIM:606999) which is consistence with Duarte galactosemia.
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