scholarly journals Coincidence of 3-methylglutaconic aciduria and duplication 5q – a case report and literature review

2020 ◽  
Author(s):  
Paweł Zapolnik ◽  
Jolanta Sykut-Cegielska ◽  
Antoni Pyrkosz
Keyword(s):  
Case Report ◽  
Inborn Errors Of Metabolism ◽  
Lower Limbs ◽  
Comparative Genomic ◽  
Inborn Errors ◽  
Type Iv ◽  
Clinical Presentations ◽  
Spastic Paresis ◽  
Methylglutaconic Aciduria ◽  
Generation Sequencing

3-methylglutaconic aciduria includes a heterogeneous group of inborn errors of metabolism. The disease may have various clinical presentations, as can duplication 5q. We present the case of a 13-year-old boy with 3-methylglutaconic aciduria and duplication 5q. The main symptoms included myopathy, weakness, spastic paresis intensified mostly in the lower limbs, and intellectual disability. Additional studies showed elevated levels of 3-methylglutaconic acid in urine and ammonia in plasma. A duplication in region 5q23.3q31.1 was found in array-based comparative genomic hybridization. Next-generation sequencing did not reveal any pathological mutation. On the basis of the clinical picture and the results of biochemical and genetic tests 3-methylglutaconic aciduria type IV with duplication 5q was diagnosed.

scholarly journals Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

2017 ◽  
Vol 102 (11) ◽  
pp. 1019-1029 ◽  
Author(s):  
Arunabha Ghosh ◽  
Helene Schlecht ◽  
Lesley E Heptinstall ◽  
John K Bassett ◽  
Eleanor Cartwright ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Inborn Errors Of Metabolism ◽  
Next Generation ◽  
Childhood Onset ◽  
Inborn Errors ◽  
Generation Sequencing

scholarly journals Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby

2013 ◽  
Vol 3 (1) ◽  
pp. 17-20
Author(s):  
Moushumi Lodh ◽  
Joshi Anand Kerketta
Keyword(s):  
Case Report ◽  
Amino Acid ◽  
Inborn Error ◽  
Inborn Errors Of Metabolism ◽  
Amino Acid Metabolism ◽  
Acid Metabolism ◽  
Review Of The Literature ◽  
Medical Sciences ◽  
Inborn Errors ◽  
High Degree

Inborn errors of amino acid metabolism (IEM) are of concern in India, the spectrum being wide, varied and poorly diagnosed. Since aggregate incidence of inborn errors of metabolism is relatively high, in countries such as India, a high degree of suspicion is essential to correctly diagnose an inborn error of amino acid metabolism. We report a case of citrullinemia, glycinemia with hyperammonaemia and seizures in a 4-dayold previously asymptomatic baby, with a brief review of the literature. DOI: http://dx.doi.org/10.3126/ajms.v3i1.4801 Asian Journal of Medical Sciences 3(2012) 17-20

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

2013 ◽  
Vol 36 (6) ◽  
pp. 923-928 ◽  
Author(s):  
Saskia B. Wortmann ◽  
Marinus Duran ◽  
Yair Anikster ◽  
Peter G. Barth ◽  
Wolfgang Sperl ◽  
...  
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Inborn Errors ◽  
Discriminative Feature ◽  
Methylglutaconic Aciduria

scholarly journals Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

PLoS ONE ◽  
2016 ◽  
Vol 11 (5) ◽  
pp. e0156359 ◽  
Author(s):  
Dèlia Yubero ◽  
Núria Brandi ◽  
Aida Ormazabal ◽  
Àngels Garcia-Cazorla ◽  
Belén Pérez-Dueñas ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Inborn Errors Of Metabolism ◽  
Next Generation ◽  
Inborn Errors ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals Screening for inborn errors of metabolism in psychotic patients using Next Generation Sequencing

2021 ◽  
Author(s):  
Nikita van de Burgt ◽  
Silvana van Koningsbruggen ◽  
Leonie Behrens ◽  
Nicole Leibold ◽  
Pilar Martinez-Martinez ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Inborn Errors Of Metabolism ◽  
Next Generation ◽  
Inborn Errors ◽  
Generation Sequencing

Neurological and Psychiatric Symptoms

2016 ◽  
Author(s):  
Frédéric Sedel ◽  
Yann Nadjar
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Psychiatric Symptoms ◽  
Late Onset ◽  
Spastic Paraparesis ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Neurological Manifestations ◽  
Limited Information ◽  
Inborn Errors ◽  
Clinical Presentations

Late-onset forms of inborn errors of metabolism (IEM) first presenting in adulthood often display psychiatric or neurological manifestations, including atypical psychosis or depression, unexplained coma, peripheral neuropathy, cerebellar ataxia, spastic paraparesis, dementia, movement disorders, or epilepsy. With the exception of several review articles, most if not all existing books and diagnostic algorithms refer to pediatric forms of these diseases. Late-onset forms of IEM always display attenuated phenotypes, which in some instances are associated with one or more clinical manifestations that differ from the classic clinical picture described in children. Although the limited information available about adult forms of IEM makes the specialty new and quite exploratory, the diagnostic approach in adults is facilitated by the fact that the nervous system is already mature. Therefore, clinical presentations are more homogeneous than in children, in whom clinical signs usually differ depending on their stage of maturation.

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