Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review

Tavasoli, Ali Reza; Badv, Reza Shervin; Zschocke, Johannes; Ashrafi, Mahmoud Reza; Rostami, Parastoo

doi:10.1016/j.braindev.2017.04.007

Cited by 7 publications

(5 citation statements)

References 10 publications

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“…At present, there are no specific therapeutic options available for the treatment of 3 MGA I. However, leucine restricted diet will help to improve neurological outcomes [11]. In the present case, the child was improved, and there were no other neurological abnormalities with a low leucine diet.…”

Section: Discussionmentioning

confidence: 48%

“…In the present case, DNA analysis with nextgeneration sequencing showed a novel mutation of variant c.505+1G>C (5' splice site) in intron 4 of the AUH gene in a homozygous state. In literature, rare case series have been reported with this gene mutation [7,8,10,11]. Ly et al reported a variety of AUH gene mutations in five patients from four independent families [10].…”

Section: Discussionmentioning

confidence: 99%

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Acute Encephalopathic Presentation of 3-Methylglutaconic Aciduria Type I With a Novel Mutation in AUH Gene

Dudipala¹,

Prashanthi

B³

et al. 2020

Cureus

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Section: Discussionmentioning

confidence: 48%

Section: Discussionmentioning

confidence: 99%

Acute Encephalopathic Presentation of 3-Methylglutaconic Aciduria Type I With a Novel Mutation in AUH Gene

Dudipala¹,

Prashanthi

B³

et al. 2020

Cureus

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“…20 Speech delay and GDD are often prominent symptoms of the resulting disease. 20,21 To elucidate the clinical significance of the identified deletion, the authors reviewed published case reports in the literature and evaluated the phenotypes. Table 1 presents the published loci overlapping with that of the current study.…”

Section: Discussionmentioning

confidence: 99%

De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay

Keselman

Singh

Cohen

et al. 2019

Child Neurology Open

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Cytogenomic microarray (CMA) methodologies, including array comparative genomic hybridization (aCGH) and single-nucleotide polymorphism-detecting arrays (SNP-array), are recommended as the first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. The authors report on a child with global developmental delay (GDD) and a de novo interstitial 7.0 Mb deletion of 9q21.33q22.31 detected by aCGH. The patient that the authors report here is noteworthy in that she presented with GDD and her interstitial deletion is not inclusive of the 9q22.32 locus that includes the PTCH1 gene, which is implicated in Gorlin syndrome, or basal cell nevus syndrome (BCNS), has not been previously reported among patients with a similar or smaller size of the deletion in this locus suggesting that the genomic contents in the identified deletion on 9q21.33q22.31 is critical for the phenotype.

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“…MGCA1 has been diagnosed in 19 subjects described in the literature (Tables 1 and 2). Patients affected by this disease manifest a wide range of clinical signs, ranging from no or mild symptoms [8,9] to mild neurological impairment [10,11], acute encephalopathy [12][13][14], severe encephalopathy with basal ganglia involvement [15,16], and slowly MGH catalyses the fifth step in the leucine degradation pathway, the reversible hydration of 3-methylglutaconyl-coenzyme A (3-MG-CoA) to 3-hydroxy-3-methylglutarylcoenzyme A (HMG-CoA). MGH deficiency results in 3-MG-CoA accumulation within the mitochondrial matrix [5,6], which in turn is converted to 3-methylglutaconic acid by coenzyme A thioester bond hydrolytic cleavage, followed by export of 3-methylglutaconic acid from the mitochondrion [7].…”

Section: Introductionmentioning

confidence: 99%

“…MGCA1 has been diagnosed in 19 subjects described in the literature (Tables 1 and 2). Patients affected by this disease manifest a wide range of clinical signs, ranging from no or mild symptoms [8,9] to mild neurological impairment [10,11], acute encephalopathy [12][13][14], severe encephalopathy with basal ganglia involvement [15,16], and slowly progressive leukoencephalopathy presenting in adulthood [17][18][19][20]. Dilated cardiomyopathy [21], central precocious puberty, attention deficient hyperactivity disorder, learning disability, and white matter alterations on magnetic resonance imaging [22] have also been described.…”

Section: Introductionmentioning

confidence: 99%

3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature

Nardecchia

Caciotti

Giovanniello

et al. 2022

IJMS

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3-Methylglutaconic aciduria type I (MGCA1) is an inborn error of the leucine degradation pathway caused by pathogenic variants in the AUH gene, which encodes 3-methylglutaconyl-coenzyme A hydratase (MGH). To date, MGCA1 has been diagnosed in 19 subjects and has been associated with a variable clinical picture, ranging from no symptoms to severe encephalopathy with basal ganglia involvement. We report the case of a 31-month-old female child referred to our center after the detection of increased 3-hydroxyisovalerylcarnitine levels at newborn screening, which were associated with increased urinary excretion of 3-methylglutaconic acid, 3-hydroxyisovaleric acid, and 3-methylglutaric acid. A next-generation sequencing (NGS) panel for 3-methylglutaconic aciduria failed to establish a definitive diagnosis. To further investigate the strong biochemical indication, we measured MGH activity, which was markedly decreased. Finally, single nucleotide polymorphism array analysis disclosed the presence of two microdeletions in compound heterozygosity encompassing the AUH gene, which confirmed the diagnosis. The patient was then supplemented with levocarnitine and protein intake was slowly decreased. At the last examination, the patient showed mild clumsiness and an expressive language disorder. This case exemplifies the importance of the biochemical phenotype in the differential diagnosis of metabolic diseases and the importance of collaboration between clinicians, biochemists, and geneticists for an accurate diagnosis.

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Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review

Cited by 7 publications

References 10 publications

Acute Encephalopathic Presentation of 3-Methylglutaconic Aciduria Type I With a Novel Mutation in AUH Gene

Acute Encephalopathic Presentation of 3-Methylglutaconic Aciduria Type I With a Novel Mutation in AUH Gene

De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay

3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature

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