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Deficiency of Sulfite Oxidase

Sulfite Oxidase Deficiency


Presentation

  • Later or milder presentations of SOD are being reported with increasing frequency. These presentations include neurological regression with loss of previously acquired milestones or movement disorders.[ncbi.nlm.nih.gov]
  • We report a case of a newborn infant boy with isolated sulfite oxidase deficiency who presented with generalized seizures on his fourth day of life. Plasma total homocysteine was not detectable.[ncbi.nlm.nih.gov]
  • The patient presented neonatally with intractable seizures and did not progress developmentally beyond the neonatal stage. Dislocated lenses were apparent at 2 months.[ncbi.nlm.nih.gov]
  • This is a rare autosomal-recessive disorder presenting at birth with seizures, severe neurologic disease, and ectopia lentis.[ncbi.nlm.nih.gov]
  • The present report establishes the occurrence of an ezymatic defect in this infant. His liver, brain, and kidney specifically lacked sulfite oxidase activity.[ncbi.nlm.nih.gov]
Distractibility
  • 10 tips to clear your brain fog. 12 reasons you're distracted. Exercises for your joints. Each one takes 10 minutes or less. Revitalize your life. WebMD the app Get trusted health information. Whenever. Wherever... with your iPhone, iPad or Android.[webmd.com]
Profound Mental Retardation
  • In both, neurologic problems started soon after birth and progressed rapidly to profound mental retardation, microcephaly, blindness, and spastic quadriparesis. Seizures were a persistent problem throughout the course of their illness.[ncbi.nlm.nih.gov]
  • Both had profound mental retardation, microcephaly, spastic quadriparesis, and uncontrolled seizures from the neonatal period. Diagnosis was established by demonstrating the presence of sulfites in urine and genetic analysis.[ncbi.nlm.nih.gov]
  • Individuals affected with sulfite oxidase deficiency most commonly present in the neonatal period with intractable seizures, characteristic dysmorphic features, and profound mental retardation.[checkorphan.org]
  • Individuals affected with sulfite oxidase deficiency most commonly present in the neonatal period with intractable seizures, characteristic dysmorphic features, and profound mental retardation .[emedicine.medscape.com]
Generalized Seizure
  • We report a case of a newborn infant boy with isolated sulfite oxidase deficiency who presented with generalized seizures on his fourth day of life. Plasma total homocysteine was not detectable.[ncbi.nlm.nih.gov]
Psychomotor Regression
  • The association of ectopia lentis with a movement disorder, even without psychomotor regression, should prompt us to look for this diagnosis.[ncbi.nlm.nih.gov]

Workup

  • Three patients with isolated sulfite oxidase deficiency are studied who manifested intractable seizures and severe hypotonia in the immediate postnatal period with an unknown diagnosis, despite extensive workup.[ncbi.nlm.nih.gov]
  • Metabolic workups revealed normal bicarbonate and ammonia levels, and a normal level of plasma uric acid 5.6 mg/dl (normal reference 2.4-7.2).[ojrd.biomedcentral.com]
  • Complete laboratory workup for diagnosis for MCD therefore includes plasma amino acids, serum uric acid, urine amino acids and total homocysteine (urine and plasma).[cancertherapyadvisor.com]
Liver Biopsy
  • Low xanthine oxidase and absent sulfite oxidase activities were found on liver biopsy. No abnormality was detected in either parent. Both the above enzymes are molybdenum-flavoproteins.[ncbi.nlm.nih.gov]
  • Deficiencies of both xanthine oxidase and sulfite oxidase were demonstrated in a liver biopsy specimen.[nature.com]

Treatment

  • Some of these opinions may contain information about treatment or uses of drug products that have not been approved by the U.S. Food and Drug Administration. WebMD does not endorse any specific product, service, or treatment.[webmd.com]
  • Management and treatment There is no cure for sulfite oxidase deficiency. Antiepileptic drugs in various combinations are used for control of seizures.[orpha.net]
  • There is a special demand for prenatal diagnosis, since no effective treatment is available for isolated sulfite oxidase deficiency.[ncbi.nlm.nih.gov]
  • Various dietary manipulation and molybdenum cofactor treatment have been suggested as partial treatments for molybdenum cofactor deficiency for this type of genetic disorder but only OGD offers a definitive reproductive option for families with ISOD.[ashg.org]
  • No treatment has showed to be effective.[docksci.com]

Prognosis

  • Prognosis The prognosis of the disease is poor. For those who survive infancy, new treatments have led to improvement in some patients. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Gaslini Childrens Hospital, Genoa, Italy, IT X close Abstract Isolated sulfite oxidase deficiency is a rare, autosomal recessive disease with a very poor prognosis.[jbsr.be]
  • Prognosis - Sulfite oxidase deficiency Not supplied. Treatment - Sulfite oxidase deficiency Not supplied. Resources - Sulfite oxidase deficiency Not supplied.[checkorphan.org]
  • Diagnosis and Prognosis: Most cases have an early onset of symptoms during early childhood. Symptoms of delayed development and a general ‘floppiness’ may be seen and are often accompanied by agitation and feeding problems.[disorders.eyes.arizona.edu]
  • Prognosis is poor, even more in the isolated form; patients usually die during the first few months of life. Dietary methionine intake should be restricted; this restriction improves biochemical values but not neurological outcome.[docksci.com]

Etiology

  • Neuropathological findings of cortical necrosis and extensive cavitating leukoencephalopathy were reminiscent of those seen in severe perinatal asphyxia suggesting an etiology of energy deficiency.[ncbi.nlm.nih.gov]
  • Etiology Isolated sulfite oxidase deficiency is caused by a mutation in the SUOX gene (12q13.13) (see this term).[orpha.net]
  • Rarely it is an etiology of psychomotor retardation of childhood. Lens dislocation outside of the neonatal period is a common finding but of variable onset.[cancertherapyadvisor.com]

Epidemiology

  • Neonatal hepatic syndrome 187 Severe hepatocellular dysfunction 189 Hypoglycemia 192 Nonimmune fetal hydrops 193 Initial management 194 Summary comments 196 Biblipgraphy 197 Newborn screening 198 Screening for medical intervention 199 Screening to answer epidemiological[books.google.de]
  • Summary Epidemiology The prevalence is unknown but is very rare. At least 100 patients with sulfite oxidase deficiency have been reported with approximately 75% of cases being related to molybdenum cofactor (MoCo) deficiency.[orpha.net]
  • Epidemiology Frequency United States Frequency of sulfite oxidase deficiency is unknown; however, this disorder is probably underdiagnosed. International Worldwide, approximately 50 cases of sulfite oxidase deficiency have been reported.[emedicine.medscape.com]
  • It has been observed in all ethnic groups but its rarity so far prevents clear delineation of epidemiologic patterns.[cancertherapyadvisor.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Inherited defects in the sulfite oxidase enzyme cause the phenotype of sulfite oxidase deficiency in a minority of cases.[emedicine.medscape.com]
  • Mol Genet Metab 104:48–60 CrossRef PubMed Google Scholar Stöckler S, Schutz PW, Salomons GS (2007) Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.[link.springer.com]
  • (Includes an excellent review of the molecular basis and pathophysiology causing the clinical disease.) Copyright 2017, 2013 Decision Support in Medicine, LLC. All rights reserved.[cancertherapyadvisor.com]

Prevention

  • […] imaging and MR spectroscopy measurements may help differentiate isolated sulfite oxidase deficiency from hypoxic-ischemic condition in patients in whom this diagnosis is not clinically suspected and may lead to further genetic antenatal inquiry that might prevent[ncbi.nlm.nih.gov]
  • Prevention - Sulfite oxidase deficiency Not supplied. Diagnosis - Sulfite oxidase deficiency signs and symptoms of Sulfite oxidase deficiency may vary on an individual basis for each patient.[checkorphan.org]
  • Although it cannot reverse the cerebral injury that has already occurred, seizures are stopped and neurotoxicity and further cerebral damage is prevented.[orpha.net]
  • The SUOX gene mutations that cause ISOD impair the function of sulfite oxidase, preventing complete breakdown of sulfur-containing amino acids.[ghr.nlm.nih.gov]
  • It has been observed in all ethnic groups but its rarity so far prevents clear delineation of epidemiologic patterns.[cancertherapyadvisor.com]

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