Abstract
Analysis of α-aminoadipic semialdehyde is an important tool in the diagnosis of antiquitin deficiency (pyridoxine-dependent epilepsy). However continuing use of this test has revealed that elevated urinary excretion of α-aminoadipic semialdehyde is not only found in patients with pyridoxine-dependent epilepsy but is also seen in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. This should be taken into account when interpreting the laboratory data. Sulphite was shown to inhibit α-aminoadipic semialdehyde dehydrogenase in vitro.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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2-Aminoadipic Acid / analogs & derivatives*
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2-Aminoadipic Acid / urine
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Adolescent
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Amino Acid Metabolism, Inborn Errors / metabolism
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Amino Acid Metabolism, Inborn Errors / urine*
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Child
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Coenzymes / deficiency*
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Cysteine / analogs & derivatives
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Cysteine / pharmacology
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Humans
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Infant, Newborn
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L-Aminoadipate-Semialdehyde Dehydrogenase / antagonists & inhibitors
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Lysine / metabolism
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Metabolic Networks and Pathways
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Metal Metabolism, Inborn Errors / metabolism
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Metal Metabolism, Inborn Errors / urine*
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Metalloproteins / deficiency*
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Models, Biological
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Molybdenum Cofactors
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Molybdoferredoxin / metabolism
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Molybdoferredoxin / urine
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Oxidoreductases Acting on Sulfur Group Donors / deficiency*
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Pteridines
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Sulfite Oxidase / deficiency
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Sulfite Oxidase / metabolism
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Sulfite Oxidase / urine
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Sulfites / pharmacology
Substances
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Coenzymes
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Metalloproteins
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Molybdenum Cofactors
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Molybdoferredoxin
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Pteridines
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Sulfites
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2-Aminoadipic Acid
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allysine
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S-sulphocysteine
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molybdenum cofactor
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L-Aminoadipate-Semialdehyde Dehydrogenase
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Oxidoreductases Acting on Sulfur Group Donors
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SUOX protein, human
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Sulfite Oxidase
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Lysine
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Cysteine
Supplementary concepts
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Molybdenum cofactor deficiency
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Sulfite oxidase deficiency