Abstract |
Neonatal sulphite oxidase deficiency is characterised by severe neurologic dysfunction, brain atrophy, dislocation of the lens and increased urinary excretion of sulphite, thiosulphate, taurine and S-sulphocysteine, and by a low plasma cystine. We present clinical, neuroradiological and biochemical data of a patient with late onset symptoms comparing this presentation with the neonatal form and stressing the difficulties of the diagnosis of this disorder.
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Authors | C Barbot, E Martins, L Vilarinho, C Dorche, M L Cardoso |
Journal | Neuropediatrics
(Neuropediatrics)
Vol. 26
Issue 6
Pg. 322-4
(Dec 1995)
ISSN: 0174-304X [Print] Germany |
PMID | 8719749
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Oxidoreductases Acting on Sulfur Group Donors
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Topics |
- Atrophy
(diagnosis, physiopathology)
- Child
- Electroencephalography
- Female
- Globus Pallidus
(physiopathology)
- Humans
- Magnetic Resonance Imaging
- Oxidoreductases Acting on Sulfur Group Donors
(deficiency, urine)
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