Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia

Sass, J. O.; Gündüz, Ayşegül; Funayama, Carolina Araújo Rodrigues; Korkmaz, Barış; Pinto, Kylvia Giselle Dantas; Tüysüz, Beyhan; Santos, Leticia Yanasse Dos; Taşkıran, Emine; Turcato, Marlene de Fátima; Lam, Ching‐Wan; Reiss, Jochen; Walter, Melanie; Yalçınkaya, Cengiz; Camelo, José Simon

doi:10.1016/j.braindev.2009.09.005

Cited by 72 publications

(53 citation statements)

References 22 publications

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“…ble I). To date, the neuropathogenesis of this disease has not been fully clarified; it has been hypothesized that the accumulation of neurotoxic products or the lack of sulfate may eventually lead to energy failure at a cellular level (1,2).…”

Section: Discussionmentioning

confidence: 99%

“…In fact, neuroimaging findings in isolated sulfite oxidase deficiency include cerebral and cerebellar atrophy, ventricular dilatation, cystic leukomalacia, hypoplasia of the corpus callosum, and cystic changes in activation of sulphite oxidase, and is also necessary for the activation of xanthine oxidase and aldehyde dehydrogenase. Reduced function of sulphite oxidase may either result from an isolated deficiency (SUOX gene, located on chromosome 12q) or from defective synthesis of molybdenum (MOCS1, MOCS2, and MOCS3 GEPH genes (2). Regardless of the affected gene, the clinical presentation is almost identical.…”

Section: Sulfite Oxidase Deficiency In a Newbornmentioning

confidence: 99%

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Sulfite oxidase deficiency in a newborn

Meylaerts

et al. 2014

Journal of the Belgian Society of Radiology

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A two-day-old newborn girl presented with intermittent episodes of hypertonia and hypotonia, increasing in frequency and intensity. Her parents were distant cousins , and her two sisters showed a normal development after a normal pregnancy. On admission, an EEG combined with video recording showed no focal epileptic activity during repeated short contractions in both arms and/ or limbs. Seven days later, repeat EEG showed diffusely slowed monomorphic trace of rather low voltage, but again without epileptic characteristics. Brain ultrasound, performed on admission, revealed hypoplasia of the corpus callosum, enlarged lateral ventricles, and cystic formations in the white matter. MRI, performed at age 3 days, confirmed the hypoplasia of the corpus callosum found on ultrasound and showed a diffuse cystic degeneration of the supratentorial white matter, mainly involving the frontoparietal regions (Fig. 1).The subsequent diagnostic workup was based on a differential diagnosis between a possible metabolic disease and hypoxic-ischemic-related mulitcystic encephalopathy. Biochemical examinations revealed undetectable homocysteine plasma levels (0 mol/L, reference value: 15-100 micromol/L) in two separate occasions. Analysis of freshly catheterized urine was positive for sulphite (+/-40 mg/L), and showed an increased S-sulfocysteïne and taurine. A normal value of uric acid was measured in the plasma (4.6 mg/dL, reference 2.0 to 5.5 mg/dL), and there were no elevated urinary levels of xanthine (8 mmol/mol creat., reference value ≤ 66 mmol/mol creat.) or DiscussionSulphite oxidase is a mitochondrial enzyme that plays a role in the oxidation of sulfite to sulfate, which is the final step in the metabolism of sulfur-containing amino acids (methionine, homocysteine) (1). With this step, two electrons are released, and these are mediated by cytochrome c to the electron transport chain, enabling the production of ATP (oxidative phosphorylation). Molybdenum is a necessary co-factor for the hypoxanthine (≤ 99 mmol/mol creat.). The latter measurements ruled out molybdenum cofactor deficiency and a diagnosis of isolated sulfite oxidase deficiency was established. -BTR, 2014, 97: 113-114. JBR Sulfite oxiDaSe DefiCienCy in a newborn

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Section: Discussionmentioning

confidence: 99%

Section: Sulfite Oxidase Deficiency In a Newbornmentioning

confidence: 99%

Sulfite oxidase deficiency in a newborn

Meylaerts

et al. 2014

Journal of the Belgian Society of Radiology

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“…Urinary excretion of xanthine and hypoxanthine is normal, and so is uric acid, unlike the combined deficiency of sulfite and xanthine oxidase seen in MoCoD (Fig. 1) [1][2][3].…”

Section: Introductionmentioning

confidence: 91%

“…Most patients develop microcephaly, feeding difficulties and dislocated ocular lenses. A few patients present with a milder late onset form of the disease with dystonia and developmental regression [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

Sulfite oxidase deficiency – An unusual late and mild presentation

Rocha

Ferreira

Dias

et al. 2014

Brain and Development

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Introduction: Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including seizures, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic ischemia, with premature death. Most patients develop dislocated ocular lenses. 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. Case report: We report a four years old girl presenting with intermittent ataxia and uncoordinated limb movements. A similar episode of ataxia had occurred previously, one year before, with complete neurologic recovery and normal developmental milestones. Bilateral lens dislocation had been recently diagnosed. Cranial MRI demonstrated bilateral globus pallidus enhancement. Low homocysteine was found in plasma and Sulfitest R was positive. Further investigations led to confirmation of isolated sulfite oxidase deficiency with no enzyme activity detected on skin fibroblasts culture. Discussion: This case illustrates the clinical variability of SOD and it is not only atypical but also seems to be the mildest form described so far. The association of ectopia lentis with a movement disorder, even without psychomotor regression, should prompt us to look for this diagnosis.

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“…NALD is a autosomal recessive disease characterized by accumulation of complex lipids, including cholesterol, cholesterol esters, total phospholipids, total galactolipids, and gangliosides. Clinical onset may be at birth with deafness and blindness, severe hypotonia and failure to thrive [38]. A retinopathic "leopard spot" is a pathognomonic sign.…”

Section: Storage Disorders Peroxisomal Disordersmentioning

confidence: 99%

Neonatal Seizures and Inborn Errors of Metabolism: An Update

Parisi¹,

Nicotera²,

Alagna³

et al. 2015

Int J Pediatr Neonat Care

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Early identification of an underlying inborn error of metabolism in newborns with otherwise unexplained seizures may address appropriate disease-specific treatment and provide important tools about the choice of the antiepileptic drugs.Neonatal seizures usually present as prolonged or recurrent, often configuring epileptic status. Striking features of an underlying metabolic disorder include abnormal neurological examination, lethargy and/ or symptoms of acute decompensation.Ex adiuvantibus, trial with intravenous pyridoxine administration could be attempted in refractory unexplained neonatal seizures. Peculiar EEG patterns such as Suppression Burst may address diagnosis and laboratory work-up being most frequently associated to specific metabolic disorders.

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Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia

Cited by 72 publications

References 22 publications

Sulfite oxidase deficiency in a newborn

Sulfite oxidase deficiency in a newborn

Sulfite oxidase deficiency – An unusual late and mild presentation

Neonatal Seizures and Inborn Errors of Metabolism: An Update

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