Sulfocysteinuria

Alternative Names

  • Sulfite Oxidase Deficiency

Associated Genes

Sulfite Oxidase
Back to search Result
WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

272300

Mode of Inheritance

Autosomal recessive

Gene Map Locus

12q13.2

Description

Sulfite Oxidase Deficiency is a rare autosomal recessive metabolic condition, characterized by neurologic defects, such as seizures, multicystic leukoencephalopathy with brain atrophy, generalized dystonia and choreoathetosis, as well as minimal development of language. Approximately 50 cases have been reported with Sulfite Oxidase Deficiency worldwide. There is no treatment for this disease, and it is fatal in infancy or early childhood. Survivors often exhibit profound mental retardation.

Molecular Genetics

Mutations in the SUOX gene are the cause of Sulfite Oxidase Deficiency. This gene codes for sulfite oxidase, an enzyme that catalyses the oxidative degradation of the sulfur amino acids cysteine and methionine. The pathogenesis of brain damage in this condition is still not known, but it may be related to sulfite accumulation or lack of sulfate in the CNS.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
272300.1.1Saudi ArabiaMaleYesYes Seizure; Microcephaly; Global developm...NM_000456.3:c.520delHomozygousAutosomal, RecessiveSeidahmed et al. 2005 The patient had two ...
272300.2.1SudanFemaleYesYes Death in infancy; Seizure; Microcepha...NM_000456.2:c.1233_1234delHomozygousAutosomal, RecessiveSalih et al. 2013
272300.2.2SudanMaleYesYes Seizure; Microcephaly; Brain atrop...NM_000456.2:c.1233_1234delHomozygousAutosomal, RecessiveSalih et al. 2013 Brother of 272300.2....
272300.2.3SudanMaleYesYes Seizure; Neonatal deathNM_000456.2:c.1233_1234delHomozygousAutosomal, RecessiveSalih et al. 2013 Brother of 272300.2....
272300.3United Arab EmiratesUnknownNM_001032386.2:c.650G>AHomozygousAutosomal, RecessiveAl-Shamsi et al. 2014

Other Reports

Algeria

Vianey-Liaud et al. (1988) reported an affected child of a consanguineous Algerian couple. The proband, a boy, died at 9 days of life. Two older sibs, a boy and a girl, had died in the first days of life, apparently of the same disorder.

Saudi Arabia

Eyaid et al, (2005) reported two siblings, a 1-year-old girl and an 8-year-old boy with isolated sulfite oxidase deficiency.  Both children presented with intractable seizures.  The affected girl, at four days of age, became inactive with poor sucking and began to have intractable seizures.  She was micorcephalic with poor head and trunk control.  At the age of one year, she continued to have partially controlled seizures and poor sucking reflex.  A novel liquid chromatography tandem mass spectrometry test revealed an abnormal S-sulfocysteinuria level.  Her affected brother started to have intractable seizures at five days of age.  At the age of eight years, he was severely micorcephalic with spastic quadriplegia and bilateral dislocation of lenses.  His S-sulfocysteinuria level was also abnormal.  Both siblings had normal xanthine, hypocanthine, and uric acid levels, which is consistent with isolated sulfite oxidase deficiency.

© CAGS 2024. All rights reserved.