Abstract
GAL is an inborn error of galactose metabolism characterized by CNS and liver disease, cataracts and hyperaminoaciduria. The pathogenesis of cellular damage in GAL has not been defined; AA disturbances may play a role. We have studied AA in blood and CSF and the CSF AA-related NT metabolites in neonates with GAL, and have related the results to the other biochemical and the clinical disturbances. Twenty-two infants had blood AA determinations from the routine newborn screening specimen. Substantial elevations of tyrosine and phenylalanine were present in 3/5 who later became septic. Plasma AA were measured in 11/22 infants immediately prior to therapy. Tyrosine was the most conspicuously elevated (211-1515 μM; n1 70 ± 29 μM) .Less markedly elevated AA included phenylalanine, threonine, serine, glycine, alanine, ornithine, lysine and histidine. Methionine was only mildly increased, while the branched-chain AA were normal. CSF AA in 5 infants reflected plasma abnormalities. There was no correlation between the degree of AA abnormality and either the severity of liver disease or the presence of cataracts. However, 2 variant infants with residual transferase activity who were phenotypically normal had normal AA profiles. CSF NT metabolites were normal in 5 infants.
There appears to be a pattern of AA abnormality characteristic of neonates with classic GAL. The early CNS effect in GAL, however, seems not to be associated with AA-related NT deficiencies.
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Korson, M., Irons, M. & Levy, H. AMINO ACID (AA) AND CSF NEUROTRANSMITTER (NT) PROFILES IN NEONATES WITH GALACTOSEMIA (GAL). Pediatr Res 21 (Suppl 4), 291 (1987). https://doi.org/10.1203/00006450-198704010-00743
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DOI: https://doi.org/10.1203/00006450-198704010-00743