PMID: 6413778Jan 1, 1983Paper

Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase

Journal of Inherited Metabolic Disease
S K WadmanR Berger

Abstract

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.

References

Mar 24, 1977·The New England Journal of Medicine·J W StoopR E Ballieux
Jan 1, 1977·Advances in Experimental Medicine and Biology·S K WadmanL H Siegenbeek
Jul 2, 1979·Clinica Chimica Acta; International Journal of Clinical Chemistry·V E ShihR Mandell
Nov 1, 1981·The American Journal of Clinical Nutrition·N N AbumradL S Rogers
Nov 1, 1982·Proceedings of the National Academy of Sciences of the United States of America·J L Johnson, K V Rajagopalan
Jun 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·J L JohnsonS K Wadman

❮ Previous
Next ❯

Citations

Nov 1, 1993·Annals of Neurology·R G BolesP Rinaldo
Oct 1, 1993·Biochemical Genetics·A C Braaten, M M Bentley
Jan 1, 1985·Virchows Archiv. A, Pathological Anatomy and Histopathology·P G BarthS K Wadman
Apr 1, 1988·Journal of Bioenergetics and Biomembranes·H R Scholte
Aug 1, 1995·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·M G BradburyH A Simmonds
Jan 1, 1989·Journal of Inherited Metabolic Disease·J M SaudubrayP Parvy
Jan 1, 1986·Journal of Inherited Metabolic Disease·R A RoeselF A Hommes
Jan 1, 1983·Journal of Inherited Metabolic Disease·M P Coughlan
Mar 18, 2009·Journal of Inherited Metabolic Disease·A Jurecka
Sep 15, 1984·Clinica Chimica Acta; International Journal of Clinical Chemistry·R BoulieuP Divry
Jan 1, 1994·European Journal of Pediatrics·M DuranR Berger
Jul 1, 1987·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·E Harms
Oct 16, 1999·Ophthalmology·M C EdwardsI M MacDonald
Aug 1, 1993·European Journal of Pediatrics·L K HansenE Christensen
Jul 19, 2013·The Journal of Small Animal Practice·A M L JacintoA G Gow
Jun 21, 2006·Biochimica Et Biophysica Acta·Ralf R Mendel, Florian Bittner
Sep 24, 2005·Molecular Genetics and Metabolism·William L Nyhan
Dec 1, 1990·Clinical Biochemistry·F J BamforthD A Applegarth
Aug 1, 1988·Biochemical Medicine and Metabolic Biology·J L JohnsonV E Shih
Dec 1, 1993·Nutrition in Clinical Practice : Official Publication of the American Society for Parenteral and Enteral Nutrition·V M Sardesai
Jan 1, 1990·Critical Reviews in Microbiology·S M Hinton, D Dean
Jan 1, 1985·Journal of the American College of Nutrition·W Y Chan, O M Rennert
Jan 8, 2004·Acta Physiologica Hungarica·M Boros
Jan 1, 1987·CRC Critical Reviews in Toxicology·A F Gunnison, D W Jacobsen
Nov 1, 1991·Annals of the Rheumatic Diseases·C R StevensD R Blake
Nov 1, 1987·Annals of the Rheumatic Diseases·R E AllenD R Blake
Nov 1, 1987·Nutrition Reviews·K V Rajagopalan
Aug 1, 1988·Developmental Medicine and Child Neurology·A AukettG P Hosking
Apr 1, 1985·Ophthalmic Paediatrics and Genetics·F A BeemerB P Cats
Jul 12, 2011·The Veterinary Record·A G GowA E Ridyard
Jun 1, 1997·Journal of Inherited Metabolic Disease·M DuranR Berger
Jan 1, 1987·Journal of Bacteriology·M E Johnson, K V Rajagopalan

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.