Reviewer for soc sci 1

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Reviewer for soc sci 1

A deficiency in the activity of sulfite oxidase, an enzyme that normally catalyzes conversion of sulfite to sulfate, was postulated. Sibs of the infant had died, probably of the same disorder.

Van der Klei-van Moorsel et al. No ocular abnormalities were found. A milder form of sulfite oxidase deficiency with a late onset was reported by Barbot et al.

The patient had an ataxic gait, generalized dystonia and choreoathetosis, and minimal development of language. This mild form cannot be distinguished from combined molybdenum cofactor deficiency on clinical grounds.

The sulfite test may appear negative and sulfate excretion may be in the normal range van der Klei-van Moorsel et al. She exhibited developmental delay and hypotonia during the first 2 years of life with regression beginning at approximately 21 months of age.

She had 2 healthy sibs. She had 2 seizures at approximately 5 months of age but none thereafter. At age 2 years, bilateral dislocation of the lenses was detected, and calcification of the basal ganglia and hypoplasia of the cerebellar vermis were documented on computed tomography and magnetic resonance imaging scans.

Ataxia, dystonia, and choreoathetotic movements became progressively worse. She had mild eczema, fine hair, and delayed teething, but normal nails and joints.

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She had significant irritability and spasms needing sedation at night. At age 5 years, she had significant failure to thrive with feeding problems, aspiration, and generalized hypertonia. She was found to have a mutation resulting in an arg-to-gln substitution at amino acid In 1 patient, the disease started at 15 months with an acute crisis of agitation, unexplained crying, and restlessness following otitis.

In the other patient, the diagnosis was made at 10 months when the patient presented with slight motor delay and dislocation of lenses. In both patients, sulfite oxidase activity in fibroblasts was undetectable.

The proband, a boy, died at 9 days of life.

Reviewer for soc sci 1

Two older sibs, a boy and a girl, had died in the first days of life, apparently of the same disorder. See for a disorder of the molybdenum cofactor. Antibody specific for sulfite oxidase showed no crossreacting material. Reviewing the nature of the ocular zonule, Streeten pointed out that the zonular fibers are composed of glycoprotein with a high concentration of cysteine, which undoubtedly explains their susceptibility to abnormal formation in diseases of sulfur metabolism.

They observed a good biochemical response to a low sulfur amino acid diet. In the 2 patients reported by Touati et al.

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