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]

• Epilepsy

  In: Wallace SJ, Farrell K (eds) Epilepsy in children. Arnold, London, UK Google Scholar Prasad AN, Rupar CA, Prasad C (2011) Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy. [link.springer.com]

  Although intractable epilepsy is a feature of ISOD, infantile spasms and hypsarrhythmia have not been reported. [jamanetwork.com]

  Journal Dalton Trans 3459-63 (2005) DOI: 10.1039/b505789m Reference PMID: 21803516 Authors Lee WT Title Disorders of amino acid metabolism associated with epilepsy. Journal Brain Dev 33:745-52 (2011) DOI: 10.1016/j.braindev.2011.06.014 [genome.jp]

  It may be an underreported condition of neonatal death and/or childhood developmental delay with or without epilepsy. The pathology is caused by the inability of the patients to prepare molybdenum for its biological role as an enzyme cofactor. [cancertherapyadvisor.com]

• Movement Disorder

  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]

  Mild ISOD manifests in infancy or early childhood and is characterized by ectopia lentis that is variably present, developmental delay and regression, movement disorder characterized by dystonia and choreoathetosis, ataxia, and rarely acute hemiplegia [uniprot.org]

  In addition, the nonepileptic paroxysmal movement disorder hyperekplexia has not previously been reported with ISOD. [jamanetwork.com]

  Results We report an 11-day-old female neonate who presented with feeding difficulties, decreased activity, neonatal seizures, and movement disorders within a few days after birth. [ojrd.biomedcentral.com]

• Weakness

  Examination: stuporous, weak cry, hypertonia in the limbs, 4 limbs extended, uncoordinated movements, plantar grasp reflex, weak palms 1934-5798/15/$35.00 © 2015 – IOS Press and the authors. All rights reserved 54 B. [docksci.com]

  The main symptoms of this condition include seizures, muscle weakness, an intense startle response, problems with the eyes, and muscle spasms of the head, neck, and back. Most children also experience intellectual disabilities. [diseaseinfosearch.org]

• Vomiting

  Clinical description Symptoms usually occur within the first week after birth with feeding difficulties, vomiting and seizures which are difficult to control. [orpha.net]

• Ectopia Lentis

  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]

  Affected individuals who survive past infancy usually develop displacement of the lenses of the eyes (ectopia lentis). [ghr.nlm.nih.gov]

  Mild ISOD manifests in infancy or early childhood and is characterized by ectopia lentis that is variably present, developmental delay and regression, movement disorder characterized by dystonia and choreoathetosis, ataxia, and rarely acute hemiplegia [uniprot.org]

• Dystonia

  Mild ISOD manifests in infancy or early childhood and is characterized by ectopia lentis that is variably present, developmental delay and regression, movement disorder characterized by dystonia and choreoathetosis, ataxia, and rarely acute hemiplegia [uniprot.org]

  In the second disorder of sulfite oxidase deficiency, the clinical presentation with progressive dystonia and dislocated lenses in an infant should suggest further laboratory investigations for this disorder which would not be detected by conventional [ncbi.nlm.nih.gov]

  Elevated urine sulfite, thiosulfate, and S-sulfocysteine; decreased sulfate Clinical features: Developmental delay, ectopia lentis, eczema, delayed dentition, fine hair, hemiplegia, infantile hypotonia, hypertonia, seizures, choreoathetosis, ataxia, dystonia [merckmanuals.com]

  Movement problems occur in this form of the disorder, including muscle tensing (dystonia), uncontrolled movements of the limbs (choreoathetosis), and difficulty with coordination (ataxia). [ghr.nlm.nih.gov]

  The main clinical symptoms at disease onset include feeding difficulties, irritable crying, neonatal seizures, profound developmental delay, abnormal muscle tone, and abnormal movements such as choreoathetosis and dystonia. [ojrd.biomedcentral.com]

• Muscle Tone Abnormalities

  This condition usually presents in the neonatal period and is mainly characterized by neurological abnormalities, including refractory seizures, abnormal muscle tone, abnormal movements, and marked developmental delay. [jbsr.be]

• Stupor

  Examination: stuporous, weak cry, hypertonia in the limbs, 4 limbs extended, uncoordinated movements, plantar grasp reflex, weak palms 1934-5798/15/$35.00 © 2015 – IOS Press and the authors. All rights reserved 54 B. [docksci.com]

• Phenylketonuria

  […] mercaptolactate-cysteine disulfiduria pathway methylmalonate semialdehyde dehydrogenase deficiency pathway methylmalonic acidemia pathway + multiple carboxylase deficiency pathway + nonketotic hyperglycinemia pathway ornithine carbamoyltransferase deficiency pathway phenylketonuria [rgd.mcw.edu]

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]

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]

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]

[…] features: Similar to sulfite oxidase deficiency but also urinary stones Treatment: No effective treatment Low sulfur diet possibly helpful in patients with milder symptoms Molybdopterin synthase MCOS2 (6p21.3)* Gephyrin GEPH (5q21)* *Gene has been identified [merckmanuals.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]

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]

L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. [link.springer.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]

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]

[…] 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]

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]