Sulphite oxidase deficiency

Deficiency of molybdenum cofactor can lead to sulphite oxidase deficiency (Anke and Glei 1994). 

A large elevation of Hey in body fluids and tissues is found in several genetic enzyme deficiencies, the homocystinurias. These include cystathionine /3-synlhase deficiency [9], the remethylation defects due to deficiency of MTHF reductase [10], methionine synthase and methionine synthase reductase deficiencies, as well as defects of intracellular cobalamin metabolism [11], namely the cblF, cblC and cblD defects. It is noteworthy that low levels of total Hey (tHcy) have been described in sulphite oxidase deficiency [12]. 

Sass JO, Nakanishi T, SatoT, ShimizuA (2004) New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency. Ann Clin Biochem 41 157-159... 

Touati G, Rusthoven E, Depondt E, Dorche C, Duran M, Heron B, Rabier D, Russo M, Saudubray M. Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement. / Inker Metab Dis 2000 23 45-53... 

Molybdenum cofactor deficiency (MoCoD) is an autosomal recessive, fatal neurological disorder, characterized by the combined deficiency of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase. No therapy is known for this rare disease, which results in neonatal seizures and other neurological symptoms identical to sulfite oxidase deficiency. Heterozygous carriers of a MoCo deficiency allele do not display any symptoms (Reiss et al. 1999). 

Johnson JL, Rajagopaian KV, Lanman JT et al. (1991) Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples. J Inher Metab Dis 14 932-937. 

Roesel RA, Bowyee E, Blankenship PR and Hommes EA (1986) Combined xanthine and sulphite oxidase defect due to a deficiency of molybdenum cofactor. J Inher Metab Dis 9 343-347. 

Roth A, Nogues C, Monnet JP, Ogier H and Saudubray JM (1985) Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor. Virchows Archiv (Pathol Anat) 405 379-386. 

Table 23.3. Xanthine dehydrogenase (XDH)/sulphite oxidase SO)/aldehyde oxidase (AO) deficiencies ...

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