Galactosemia Diagnosis by Whole Exome Sequencing Later in Life

Abstract

Galactosemia (OMIM:230400) is an inborn neuro-metabolic disorder caused by an alteration in 1 of the 3 enzymes involved in the metabolism of galactose: galactokinase, galactose-1-phosphateuridylintransferase (GALT), and UDP-galactose 4-epimerase. Most of the classic galactosemia patients present during the neonatal period with jaundice, hepatosplenomegaly, hepatocellular failure, poor growth, renal dysfunction, sepsis, and cataracts. Neurological complications include development delay, hypotonia, seizures, tremor, ataxia, and progressive cerebellar and extrapyramidal features, such as chorea. Here, we report a case of a Caucasian 34-year-old man with an atypical clinical presentation.