Document Detail


Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
MedLine Citation:
PMID:  22403017     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Philippa B Mills; Emma J Footitt; Serkan Ceyhan; Paula J Waters; Cornelis Jakobs; Peter T Clayton; Eduard A Struys
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-3-9
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  -     ISSN:  1573-2665     ISO Abbreviation:  -     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-3-9     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Clinical and Molecular Genetics Unit, Institute of Child Health, University College London with Great Ormond Street Hospital for Children NHS Trust, London, WC1N 1EH, UK, p.mills@ucl.ac.uk.
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