Sulfite oxidase deficiency

Brown, Orval E.; Scholem, R. D.; Croll, H. B.; Wraith, J. Edmond; McGill, Jim

doi:10.1212/wnl.39.2.252

Cited by 48 publications

(35 citation statements)

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“…As a child with molybdenum cofactor deficiency develops, the appearance of the pathologic changes in the brain unfolds on CT and MR. Just after birth, decreased CT attenuation of the cerebral white matter is observed (5,6). Based on our observations and the reports of others, brain edema may be the first manifestation of the effect on white matter of this biochemical defect.…”

Section: Discussionsupporting

confidence: 83%

“…Microscopic inspection of the brain in patients with sulfite oxidase deficiency shows diffuse myelin loss, cortical and central neuronal loss, gliosis, and cystic changes in the brain substance, most notably in the basal ganglia (2,3,5). There also is loss of cerebellar neurons and absence of myelin with accompanying gliosis (5). The same pathologic appearance of the brain is described in patients with molybdenum cofactor deficiency (2,3,6,7).…”

Section: Discussionmentioning

confidence: 71%

“…Severe diffuse brain atrophy is the dominant finding on gross pathologic examination of the central nervous system in sulfite oxidase deficiency. Microscopic inspection of the brain in patients with sulfite oxidase deficiency shows diffuse myelin loss, cortical and central neuronal loss, gliosis, and cystic changes in the brain substance, most notably in the basal ganglia (2,3,5). There also is loss of cerebellar neurons and absence of myelin with accompanying gliosis (5).…”

Section: Discussionmentioning

confidence: 99%

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Molybdenum Cofactor Deficiency

SpringerReference

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Summary: Imaging findings in two children with molybdenum cofactor deficiency included, in one, diffuse low attenuation on CT in cerebral white matter, caudate nuclei, and thalami soon after birth. MR in both patients later demonstrated progressive widening of the sulci, ventricles, and cisterna magna, and loss of brain volume. MR finally showed cessation of myelination at 31 months and 16 weeks of age. Index terms: Children, diseases; Metabolic disorderMolybdenum cofactor deficiency is a rare hereditable metabolic disorder producing neurologic deterioration and death in early childhood. It is one of the diagnosable causes of neonatal seizures. We report the computed tomography (CT) and magnetic resonance (MR) findings in two children who were diagnosed with this disorder and followed at our institution. Case 1A full-term girl was the second child of nonconsanguinous parents, born to a healthy 23-year-old mother at an outside institution. The newborn appeared healthy at birth, but when she was less than 24 hours old, tremulousness, seizures, and lactic acidosis developed. Pharmacologic control of seizures was of limited success.Over the first few months of life, neurologic signs developed, including severe truncal hypotonia, poor head and motor control, limb contractures, and swallowing dysfunction. The head circumference, which was at the 90th percentile at birth, decreased progressively. At 7 months of age, the child's development was markedly delayed, being at the level of a 2 to 3 month old. Metabolic screening test results were normal, except for low serum uric acid. Normal muscle biopsy with oxidative enzyme studies excluded the diagnosis of a mitochondrial disorder. The diagnosis of molybdenum cofactor deficiency was made when results of repeated dipstick tests for urinary sulfite were positive.The child now has been followed through her second birthday. She is severely neurologically impaired and has no verbal expression. She has bilateral lens dislocation and no visual function. Her head circumference has dropped to the 10th percentile for age.Brain CT performed soon after birth was reported to be normal. MR was performed at our facility (1.5-T magnet) at 7 months of age. The ventricles appeared moderately enlarged, and the extracerebral spaces and cisterna magna were wide. The cerebral white matter width appeared decreased, with the depths of some sulci approaching the lateral ventricular margins. A subsequent examination at 23 months of age showed marked brain volume loss, with further widening of the sulci, cisterns, and ventricles. The interhemispheric fissure, anterior cerebral, and pericerebellar subarachnoid spaces were extremely dilated. Myelination was patchy, with absence of the expected T2 hypointensity of the white matter in some regions of the cerebrum and in the cerebellar hemispheres ( Figs 1A and B). Additionally, there were areas of signal abnormality on fast spin-echo long-repetition-time sequences (3500/34/1 and 3500/102/1 [repetition time/ echo time/excitations]). These included 6-to...

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Section: Discussionsupporting

confidence: 83%

Section: Discussionmentioning

confidence: 71%

Section: Discussionmentioning

confidence: 99%

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Molybdenum Cofactor Deficiency

SpringerReference

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“…However, the lack of molybdoenzyme activities such as sulfite oxidase in affected patients as well as in gephyrin knockout mice (5) could cause neurological disorders through the accumulation of toxic metabolites (28,30). Therefore, it is not yet clear whether the role of gephyrin in Moco biosynthesis and receptor clustering at the postsynaptic membrane are two interdependent or completely separate processes.…”

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confidence: 99%

X-ray Crystal Structure of the Trimeric N-terminal Domain of Gephyrin

Solà

Kneussel

Heck³

et al. 2001

Journal of Biological Chemistry

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Gephyrin is a ubiquitously expressed protein that, in the central nervous system, forms a submembraneous scaffold for anchoring inhibitory neurotransmitter receptors in the postsynaptic membrane. The N-and Cterminal domains of gephyrin are homologous to the Escherichia coli enzymes MogA and MoeA, respectively, both of which are involved in molybdenum cofactor biosynthesis. This enzymatic pathway is highly conserved from bacteria to mammals, as underlined by the ability of gephyrin to rescue molybdenum cofactor deficiencies in different organisms. Here we report the x-ray crystal structure of the N-terminal domain (amino acids 2-188) of rat gephyrin at 1.9-Å resolution. Gephyrin-(2-188) forms trimers in solution, and a sequence motif thought to be involved in molybdopterin binding is highly conserved between gephyrin and the E. coli protein. The atomic structure of gephyrin-(2-188) resembles MogA, albeit with two major differences. The path of the Cterminal ends of gephyrin-(2-188) indicates that the central and C-terminal domains, absent in this structure, should follow a similar 3-fold arrangement as the Nterminal region. In addition, a central ␤-hairpin loop found in MogA is lacking in gephyrin-(2-188). Despite these differences, both structures show a high degree of surface charge conservation, which is consistent with their common catalytic function.

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“…ZS is a autosomal recessive disorder that could manifest at birth reflecting the ubiquity of peroxisomes and is characterized by multiple congenital abnormalities involving the eyes, bone, liver, kidneys, endocrine glands. Brain malformations may cause neonatal severe hypotonia and seizures [37]. The intracellular accumulation of VLCFA damages developing organs (e.g.…”

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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Sulfite oxidase deficiency

Cited by 48 publications

References 0 publications

Molybdenum Cofactor Deficiency

Molybdenum Cofactor Deficiency

X-ray Crystal Structure of the Trimeric N-terminal Domain of Gephyrin

Neonatal Seizures and Inborn Errors of Metabolism: An Update

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