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- W2084184837 abstract "Classical galactosemia is an autosomal recessive condition in which there is near total absence of the activity of galactose-1-phosphate uridyltransferase. Patients with this condition have substantial motor, cognitive, and psychiatric impairments despite dietary treatment. A characteristic pattern of biochemical abnormalities is observed in patients with this disorder. Galactose-1-phosphate, the substrate of galactose-1-phosphate uridyltransferase, accumulates within cells, and surplus galactose is reduced to galactitol or oxidized to galactonate. Using sophisticated mass spectrometry, these compounds as well as free galactose can be measured in plasma and in urine. It is clear that initiation of dietary restriction of galactose in the newborn period produces reversal of hepatic, renal, brain, and immune dysfunction, along with reduction of the accumulated galactose metabolites. However, the neurologist should be aware that chronic and progressive neurologic impairments occur even in patients spared these neonatal symptoms. The purpose of this review is to summarize current information about neurologic complications of galactosemia and what is known, and still unknown, about its pathophysiology." @default.
- W2084184837 created "2016-06-24" @default.
- W2084184837 creator A5005424070 @default.
- W2084184837 creator A5049033336 @default.
- W2084184837 creator A5050518752 @default.
- W2084184837 date "2005-09-01" @default.
- W2084184837 modified "2023-09-27" @default.
- W2084184837 title "An Updated Review of the Long-Term Neurological Effects of Galactosemia" @default.
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- W2084184837 doi "https://doi.org/10.1016/j.pediatrneurol.2005.02.015" @default.
- W2084184837 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16087312" @default.
- W2084184837 hasPublicationYear "2005" @default.
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