| Autor: |
Casey, R. E., Zaleski, W. A., Philp, M., Mendelson, I. S., MacKenzie, S. L. |
| Zdroj: |
Journal of Inherited Metabolic Disease; December 1978, Vol. 1 Issue: 4 p129-135, 7p |
| Abstrakt: |
A mentally retarded, 10-year-old female with obesity, hypotonia, clumsiness and mild ocular abnormalities excreted in her urine large amounts of a-aminoadipic acid. Amino acid analyser studies and gas-liquid chromatography-mass spectrometry (GC-MS) confirmed the presence of a-aminoadipic acid in both urine and plasma but, in contrast to most other patients with this disorder, failed to demonstrate significant levels of a-ketoadipic acid in urine. Other known causes of a-aminoadipic aciduria were eliminated by showing that levels of lysine, saccharopine and pipecolic acid in plasma and urine were normal and that the activity of glutaryl-CoA dehydrogenase was also normal. Loading with L-lysine and L-tryptophan both increased the concentration of a-aminoadipic acid in blood and urine compatible with a primary deficiency of a-ketoadipate dehydrogenase, in spite of the absence of a-ketoadipic aciduria. Dietary restriction of lysine and administration of vitamins B1and B6were unsuccessful in correcting the biochemical abnormality. |
| Databáze: |
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| Externí odkaz: |
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