Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients

2020 ◽  
Vol 42 (2) ◽  
pp. 157-164 ◽  
Author(s):  
Indar Kumar Sharawat ◽  
Lokesh Saini ◽  
Bhanudeep Singanamala ◽  
Arushi Gahlot Saini ◽  
Jitendra Kumar Sahu ◽  
...  
Keyword(s):  
Head Trauma ◽  
Late Onset ◽  
Sulfite Oxidase ◽  
Oxidase Deficiency ◽  
Metabolic Crisis ◽  
Sulfite Oxidase Deficiency

scholarly journals Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Maoqiang Tian ◽  
Yi Qu ◽  
Lingyi Huang ◽  
Xiaojuan Su ◽  
Shiping Li ◽  
...  
Keyword(s):  
Spontaneous Recovery ◽  
Clinical Course ◽  
Late Onset ◽  
Sulfite Oxidase ◽  
Plasma Homocysteine ◽  
Dietary Therapy ◽  
Compound Heterozygous ◽  
Oxidase Deficiency ◽  
Oxidase Gene ◽  
Sulfite Oxidase Deficiency

Abstract Background Isolated sulfite oxidase deficiency (ISOD) is an autosomal recessive disorder caused by a deficiency of sulfite oxidase, which is encoded by the sulfite oxidase gene (SUOX). Clinically, the disorder is classified as one of two forms: the late-onset mild form or the classic early-onset form. The latter is life-threatening and always leads to death during early childhood. Mild ISOD cases are rare and may benefit from dietary therapy. To date, no cases of ISOD have been reported to recover spontaneously. Here, we present three mild ISOD cases in one family, each with a stable clinical course and spontaneous recovery. Case presentation All three siblings had two novel compound heterozygous mutations in the SUOX gene (NM_000456; c.1096C > T [p.R366C] and c.1376G > A [p.R459Q]). The siblings included two males and one female with late ages of onset (12–16 months) and presented with specific neuroimaging abnormalities limited to the bilateral globus pallidus and substantia nigra. The three patients had decreased plasma homocysteine levels. They exhibited a monophasic clinical course continuing up to 8.5 years even without dietary therapy. Conclusion This is the first report of mild ISOD cases with a stable clinical course and spontaneous recovery without dietary therapy. Our study provides an expansion for the clinical spectrum of ISOD. Furthermore, we highlight the importance of including ISOD in the differential diagnosis for patients presenting with late-onset symptoms, bilaterally symmetric regions of abnormal intensities in the basal ganglia, and decreased plasma homocysteine levels.

Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency

2013 ◽  
Vol 108 (4) ◽  
pp. 263-266 ◽  
Author(s):  
Monica Del Rizzo ◽  
Alessandro P. Burlina ◽  
Jörn Oliver Sass ◽  
Frauke Beermann ◽  
Chiara Zanco ◽  
...  
Keyword(s):  
Late Onset ◽  
Sulfite Oxidase ◽  
Oxidase Deficiency ◽  
Sulfite Oxidase Deficiency ◽  
Metabolic Stroke

scholarly journals Isolated sulfite oxidase deficiency: a founder mutation

2020 ◽  
Vol 6 (6) ◽  
pp. a005900
Author(s):  
Aizeddin A. Mhanni ◽  
Cheryl R. Greenberg ◽  
Elizabeth L. Spriggs ◽  
Ronald Agatep ◽  
Reena Ray Sisk ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Sulfite Oxidase ◽  
Oxidase Deficiency ◽  
Sulfite Oxidase Deficiency

Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency and literature review

2021 ◽  
Author(s):  
Rui Zhang ◽  
Yajing Hao ◽  
Ying Xu ◽  
Jiale Qin ◽  
Yanfang Wang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Novel Mutation ◽  
Sulfite Oxidase ◽  
Loss Of Function ◽  
Oxidase Deficiency ◽  
Neurometabolic Disorders ◽  
Whole Exome ◽  
Sulfite Oxidase Deficiency

Abstract Background: Isolated sulfite oxidase deficiency (ISOD) is the rarest types of life-threatening neurometabolic disorders characterized by neonatal intractable seizures and severe developmental delay with an autosomal recessive mode of inheritance. ISOD is extremely rare and till date only 32 mutations have been identified and reported worldwide. Germline mutation in SUOX gene causes ISOD. Methods: Here, we investigated a 5-days old Chinese female child, presented with intermittent tremor or seizures of limbs, neonatal encephalopathy, subarachnoid cyst and haemorrhage, dysplasia of corpus callosum, neonatal convulsion, respiratory failure, cardiac failure, hyperlactatemia, severe metabolic acidosis, hyperglycemia, hyperkalemia, moderate anemia, atrioventricular block and complete right bundle branch block. Results: Whole exome sequencing identified a novel homozygous transition (c.1227G>A) in exon 6 of the SUOX gene in the proband. This novel homozygous variant leads to the formation of a truncated sulfite oxidase (p.Trp409*) of 408 amino acids. Hence, it is a loss-of-function variant. Proband’s father and mother is carrying this novel variant in a heterozygous state. This variant was not identified in 200 ethnically matched normal healthy control individuals. Conclusions: Our study not only expand the mutational spectrum of SUOX gene associated ISOD, but also strongly suggested the application of whole exome sequencing for identifying candidate genes and novel disease-causing mutations.

Clinical and Imaging Observations in Isolated Sulfite Oxidase Deficiency

2011 ◽  
Vol 26 (8) ◽  
pp. 1036-1040 ◽  
Author(s):  
Parayil Sankaran Bindu ◽  
Rita Christopher ◽  
Anita Mahadevan ◽  
Rose Dawn Bharath
Keyword(s):  
Sulfite Oxidase ◽  
Oxidase Deficiency ◽  
Sulfite Oxidase Deficiency

Disturbance of brain energy and redox homeostasis provoked by sulfite and thiosulfate: Potential pathomechanisms involved in the neuropathology of sulfite oxidase deficiency

Gene ◽  
2013 ◽  
Vol 531 (2) ◽  
pp. 191-198 ◽  
Author(s):  
Mateus Grings ◽  
Alana Pimentel Moura ◽  
Belisa Parmeggiani ◽  
Gustavo Flora Marcowich ◽  
Alexandre Umpierrez Amaral ◽  
...  
Keyword(s):  
Redox Homeostasis ◽  
Sulfite Oxidase ◽  
Oxidase Deficiency ◽  
Sulfite Oxidase Deficiency ◽  
Brain Energy

scholarly journals Molecular Basis of Sulfite Oxidase Deficiency from the Structure of Sulfite Oxidase

Cell ◽  
1997 ◽  
Vol 91 (7) ◽  
pp. 973-983 ◽  
Author(s):  
Caroline Kisker ◽  
Hermann Schindelin ◽  
Andrew Pacheco ◽  
William A Wehbi ◽  
Robert M Garrett ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Sulfite Oxidase ◽  
Oxidase Deficiency ◽  
Sulfite Oxidase Deficiency

scholarly journals Sulfite oxidase deficiency – An unusual late and mild presentation

2014 ◽  
Vol 36 (2) ◽  
pp. 176-179 ◽  
Author(s):  
Susana Rocha ◽  
Ana Cristina Ferreira ◽  
Ana Isabel Dias ◽  
José Pedro Vieira ◽  
Sílvia Sequeira
Keyword(s):  
Sulfite Oxidase ◽  
Oxidase Deficiency ◽  
Sulfite Oxidase Deficiency
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