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Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate
Author(s) -
Pitt J. J.,
Hawkins R.,
Cleary M.,
Eggington M.,
Thorburn D. R.,
Warwick L.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005353305705
Subject(s) - urine , succinic dehydrogenase , dehydrogenase , medicine , endocrinology , excretion , enzyme , creatinine , chemistry , glutamate dehydrogenase , biochemistry , glutamate receptor , receptor
A neonate at risk for succinic semialdehyde dehydrogenase deficiency was investigated on day 1. The urine level of 4‐hydroxybutyrate was only slightly elevated (23 µmol/mmol of creatinine; controls 1.6‐14, n=18). This value was considerably less than those found for older children with succinic semialdehyde dehydrogenase deficiency and made interpretation of the result uncertain. The diagnosis of succinic semialdehyde dehydrogenase deficiency was confirmed by enzyme assay, and repeat urine testing showed a steady increase in the level of 4‐hydroxybutrate to 359 µmol/mmol at 6 months.