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Biochemical and clinical studies of a new case of α‐aminoadipic aciduria
Author(s) -
Casey R. E.,
Zaleski W. A.,
Philp M.,
Mendelson I. S.,
MacKenzie S. L.
Publication year - 1978
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 - 10.1007/bf01805581
Subject(s) - urine , pipecolic acid , lysine , chemistry , medicine , endocrinology , biochemistry , amino acid
A mentally retarded, 10‐year‐old female with obesity, hypotonia, clumsiness and mild ocular abnormalities excreted in her urine large amounts of α‐aminoadipic acid. Amino acid analyser studies and gas‐liquid chromatography‐mass spectrometry (GC‐MS) confirmed the presence of α‐aminoadipic acid in both urine and plasma but, in contrast to most other patients with this disorder, failed to demonstrate significant levels of α‐ketoadipic acid in urine. Other known causes of α‐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 α‐aminoadipic acid in blood and urine compatible with a primary deficiency of α‐ketoadipate dehydrogenase, in spite of the absence of α‐ketoadipic aciduria. Dietary restriction of lysine and administration of vitamins B 1 and B 6 were unsuccessful in correcting the biochemical abnormality.