title: Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement.
abstract: We report an attempt at dietetic therapy in two unrelated patients with isolated sulphite oxidase deficiency, with a mild clinical course and late onset of symptoms. In case 1, disease started at 15 months with an acute crisis of agitation, unexplained crying and restlessness following otitis. Case 2 was diagnosed at 10 months when she presented with slight motor delay and dislocation of lenses. In both cases, sulphite oxidase activity measured in fibroblasts was undetectable. Therapy consisted of a diet low in protein from natural foods (daily methionine intake 130-150 mg) and a synthetic amino acid mixture (50 g per day) without cystine and methionine (Xmet, Cys Maxamaid, SHS International Ltd). A comparison of clinical and biochemical parameters was made between the period before treatment and after 2 years of treatment. Restriction in protein and sulphur amino acids brought about a dramatic decrease of urinary thiosulphate and S-sulphocysteine. It also brought about a generalized hypoaminoacidaemia with a low plasma methionine and cystine in both patients. Furthermore, both patients grew normally with no signs of neurological deterioration, and there was evidence of progress in psychomotor development.
authors.affiliation: Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Touati
authors.forename: E
authors.initials: E
authors.lastname: Rusthoven
authors.forename: E
authors.initials: E
authors.lastname: Depondt
authors.forename: C
authors.initials: C
authors.lastname: Dorche
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: B
authors.initials: B
authors.lastname: Heron
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: M
authors.initials: M
authors.lastname: Russo
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency*; D011597:Psychomotor Performance
chemical_list: D050862:Oxidoreductases Acting on Sulfur Group Donors