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]

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. [pediatrics.aappublications.org]

• Suggestibility

  This precedes severe cystic encephalomalacia and suggests that the energy failure associated with neuronal dysfunction and myelin disintegration occurs early in isolated sulfite oxidase deficiency. [ncbi.nlm.nih.gov]

  It is suggested that a defective synthesis of Mo-cofactor causes the biochemical abnormalities. Treatment with oral supplements of molybdenum did not result in biochemical or clinical improvement. [nature.com]

  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]

• 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]

• Hyperreflexia

  By age 6 months, the infant’s head circumference was just 39 cm (less than the third percentile), and he continued to have generalized hypotonia with hyperreflexia and no motor or speech development. [jamanetwork.com]

• Clonus

  […] occipital areas, and subdural hemorrhage Upon admission, the neurological examinations revealed poor eye contact, intact cranial nerves except for poor sucking and swallowing power, brisk deep tendon reflexes with extensor plantar reflex, a positive ankle clonus [ojrd.biomedcentral.com]

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]

• Cavitary Lesion

  Computed tomography of the head performed when the infant was 5 months revealed progressive degeneration of the brain with volume loss, cavitary lesions in the cerebral white matter, and bithalamic micromineralization ( Figure 1 C). [jamanetwork.com]

• Amino Acids Decreased

  Sulfite oxidase is a mitochondrial enzyme encoded by the SUOX gene and essential for the detoxification of sulfite which results mainly from the catabolism of sulfur-containing amino acids. [ncbi.nlm.nih.gov]

• White Matter Lesions

  Computed tomography of the head performed when the infant was 5 months revealed progressive degeneration of the brain with volume loss, cavitary lesions in the cerebral white matter, and bithalamic micromineralization ( Figure 1 C). [jamanetwork.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]

Management and treatment There is no cure for sulfite oxidase deficiency. Antiepileptic drugs in various combinations are used for control of seizures. [orpha.net]

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]

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]

No treatment has showed to be effective. [docksci.com]

Until recently there has been no treatment for MOCD Type A, however in 2009 Veldman et al 2 reported on the successful intravenous treatment with an E coli derived pre-cursor of molybdenum co-factor calledcPMP. [adc.bmj.com]

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]

Prognosis - Sulfite oxidase deficiency Not supplied. Treatment - Sulfite oxidase deficiency Not supplied. Resources - Sulfite oxidase deficiency Not supplied. [checkorphan.org]

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]

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]

Two years experience of the treatment of molybdenum cofactor deficiency Abstract The Pharmaceutical Challenges of Cyclic Pyranopterin Monophosphate (cPMP) Aims To provide a brief overview of the disease, molybdenum cofactor deficiency (MOCD) and its prognosis [adc.bmj.com]

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]

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]

Pathophysiology Inherited defects in the sulfite oxidase enzyme cause the phenotype of sulfite oxidase deficiency in a minority of cases. [emedicine.medscape.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]

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]

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]

[…] 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]

Although it cannot reverse the cerebral injury that has already occurred, seizures are stopped and neurotoxicity and further cerebral damage is prevented. [orpha.net]

It has been observed in all ethnic groups but its rarity so far prevents clear delineation of epidemiologic patterns. [cancertherapyadvisor.com]

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]