Abstract
Presentation and follow up of a newborn with glutaric aciduria type 1
Highlights
Variation in the exon 6 of glutaryl-CoA dehydrogenase (GCDH) gene (Chr 19:13004408; T>C: Depth 99x) that results in amino acid substitution of threonine for methionine at codon 149 (p.Met149Thr)
Lysine free formula along with breast feeds was given till 6 months
Due to strict adherence to the medical nutrition therapy and regular follow up by parents, there were no further episodes of metabolic crisis
Summary
Variation in the exon 6 of glutaryl-CoA dehydrogenase (GCDH) gene (Chr 19:13004408; T>C: Depth 99x) that results in amino acid substitution of threonine for methionine at codon 149 (p.Met149Thr). Case report An eleven day old baby girl, born of a third degree consanguineous marriage (first cousins) presented with poor feeding, decreased urine output and weight loss. Baby was born at term with a birth weight of 3.75kg and was on breast feeds. Investigations revealed very high serum sodium levels (164mEq/L) and normal potassium and glucose levels. Blood gas showed high anion gap metabolic acidosis, with normal ammonia levels and no ketosis.
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