Document Detail


Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase.
MedLine Citation:
PMID:  6413778     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Five patients with a combined deficiency of xanthine dehydrogenase, sulphite oxidase and, possibly, also of aldehyde oxidase are described. This remarkable coincidence of three inborn errors of metabolism in a single individual was demonstrated to result from a deficiency of the 'molybdenum cofactor', an essential constituent of all three enzymes. The main biochemical findings in these patients included: hypouricaemia, xanthinuria, an increased excretion of sulphite, thiosulphate and S-SUL-sulphocysteine and a decreased excretion of inorganic sulphate. Plasma molybdenum was normal. The ultimate diagnosis was made by the measurement of 'molybdenum cofactor' in a liver biopsy specimen in three out of five patients. The clinical hallmarks in these patients were: feeding difficulties, mental retardation, neurological symptoms, lens dislocation, an abnormal muscle tone, myoclonia and an abnormal physiognomy. The majority of these were already present in the neonatal period. So far, attempts at treatment have been unsuccessful.
Authors:
S K Wadman; M Duran; F A Beemer; B P Cats; J L Johnson; K V Rajagopalan; J M Saudubray; H Ogier; C Charpentier; R Berger
Related Documents :
1754748 - Anaemia in elderly patients. incidence and causes of low haemoglobin concentration in a...
12563048 - Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
12596608 - Caring for the renal failure patient: optimizing iron therapy.
11040018 - Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy.
3365118 - Patient performance level during inpatient physical rehabilitation: therapist, nurse, a...
23240518 - Management of self-harm wounds.
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  6 Suppl 1     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  1983  
Date Detail:
Created Date:  1983-11-23     Completed Date:  1983-11-23     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  78-83     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Coenzymes / deficiency*,  metabolism
Humans
Infant
Infant, Newborn
Ketone Oxidoreductases / deficiency*
Liver
Male
Metalloproteins*
Molybdenum / deficiency*,  metabolism
Oxidoreductases / deficiency*
Oxidoreductases Acting on Sulfur Group Donors / deficiency*,  metabolism
Pteridines / deficiency*,  metabolism
Xanthine Dehydrogenase / deficiency*,  metabolism
Chemical
Reg. No./Substance:
0/Coenzymes; 0/Metalloproteins; 0/Pteridines; 73508-07-3/molybdenum cofactor; 7439-98-7/Molybdenum; EC 1.-/Oxidoreductases; EC 1.17.1.4/Xanthine Dehydrogenase; EC 1.2.-/Ketone Oxidoreductases; EC 1.8.-/Oxidoreductases Acting on Sulfur Group Donors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Iron and haemochromatosis.
Next Document:  Transport and storage of metals.