Glutaric Aciduria Type 1: A Case Report and Review of Literature

Sanju, Sidaraddi; Tullu, Milind S.; Seshadri, Nithya; Agrawal, Mukesh

doi:10.1055/s-0040-1709704

Cited by 6 publications

(3 citation statements)

References 31 publications

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“…The distribution of the clinical and biochemical phenotypes was similar in all groups and no differences in outcome were noted amongst these variants. Researchers have tried for years to find a link between the genotype and phenotype of these patients in an effort to predict their prognosis with limited success ( Sanju et al, 2021 ; Sitta et al, 2021 ). Recently, an Egyptian study suggested that six variants: p.Trp50Arg, p.Glu64Asp, p.Ser119Leu, p.Arg128Gln, p.Ser139Leu, and p.Arg402Trp, might present with a genotype-phenotype correlation, indicating a poor outcome ( Mosaeilhy et al, 2017 ).…”

Section: Discussionmentioning

confidence: 99%

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

et al. 2021

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PurposeTo characterize the phenotypic and genotypic variations associated with Glutaric aciduria type 1 (GA1) in Chinese patients.MethodsWe analyzed the clinical, neuroradiological, biochemical, and genetic information from 101 GA1 patients in mainland China.Results20 patients were diagnosed by newborn screening and the remaining 81 cases were identified following clinical intervention. Macrocephaly was the most common presentation, followed by movement disorders and seizures. A total of 59 patients were evaluated by brain MRI and 58 patients presented with abnormalities, with widening of the sylvian fissures being the most common symptom. The concentration of glutarylcarnitine in the blood, glutarylcarnitine/capryloylcarnitine ratio, and urine levels of glutaric acid were increased in GA1 patients and were shown to decrease following intervention. A total of 88 patient samples were available for genotyping and 74 variants within the GCDH gene, including 23 novel variants, were identified. The most common variant was c.1244-2A > C (18.4%) and there were no significant differences in the biochemical or clinical phenotypes described for patients with the four most common variants: c.1244-2A > C, c.1064G > A, c.533G > A, and c.1147C > T. Patients identified by newborn screening had better outcomes than clinical patients.ConclusionOur findings expand the spectrum of phenotypes and genotypes for GA1 in Chinese populations and suggest that an expanded newborn screening program using tandem mass spectrometry may facilitate the early diagnosis and treatment of this disease, improving clinical outcomes for patients in China.

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Section: Discussionmentioning

confidence: 99%

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

et al. 2021

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“…neurodevelopmental impairment, epilepsy, dementia, tremor) and psychiatric (e.g. BPD, anxiety) symptoms (da Costa Ferreira et al, 2008;Goodman et al, 1998;Pokora et al, 2019;Ramsay et al, 2018;Sanju et al, 2020).…”

Section: Prevalence Of Treatable Genetic Disorder Variants Within the Study Cohortmentioning

confidence: 99%

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

Sriretnakumar

Harripaul

Kennedy

et al. 2021

Preprint

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Mental illnesses are one of the biggest contributors to the global disease burden. Despite the increased recognition, diagnosis and ongoing research of mental health disorders, the etiology and underlying molecular mechanisms of these disorders are yet to be fully elucidated. Moreover, despite many treatment options available, a large subset of the psychiatric patient population is non-responsive to standard medications and therapies. There has not been a comprehensive study to date examining the burden and impact of treatable genetic disorders (TGDs) that can present with neuropsychiatric features in psychiatric patient populations. In this study, we test the hypothesis that TGDs that present with psychiatric symptoms are more prevalent within psychiatric patient populations compared to the general population by performing targeted next-generation sequencing (NGS) of 129 genes associated with 108 TGDs in a cohort of 2301 psychiatric patients. In total, 72 putative affected and 293 putative carriers for TGDs were identified, with known or likely pathogenic variants in 78 genes. Despite screening for only 108 genetic disorders, this study showed an approximately four-fold (4.13%) enrichment for genetic disorders within the psychiatric population relative to the estimated 1% cumulative prevalence of all single gene disorders globally. This strongly suggests that the prevalence of these, and most likely all, genetic diseases are greatly underestimated in psychiatric populations. Increasing awareness and ensuring accurate diagnosis of TGDs will open new avenues to targeted treatment for a subset of psychiatric patients.

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“…Affected patients may develop normally up to 1-2 years of age; macrocephaly is a common finding and precedes the onset of neurological manifestations. If untreated, 90% of patients between 3 and 36 months of age suffer regression and severe dystonic-dyskinetic disorder [3 , 4] . Cognitive functions are relatively spared [4] .…”

Section: Introductionmentioning

confidence: 99%

Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource-limited settings

Regmi,

Yadav,

Koirala

et al. 2024

Radiology Case Reports

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Glutaric Aciduria Type 1: A Case Report and Review of Literature

Cited by 6 publications

References 31 publications

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource-limited settings

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