Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations

Park, June Dong; Lim, Byung Chan; Kim, Ki Joong; Hwang, Yong Seung; Kim, Seung Ki; Kang, Seong Ho; Cho, Sung Im; Park, Sung Sup; Lee, Joon Soo; Chae, Jong Hee

doi:10.3346/jkms.2010.25.6.957

Cited by 6 publications

(5 citation statements)

References 9 publications

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“…Glutaric and 3-hydroxyglutaric acids were the most abundant organic acids in her urine due to decreased glutaric acid metabolism. These results agree with those of another case of GA I reported by Dong et al (35).…”

Section: Discussionsupporting

confidence: 93%

“…Ketonuria was present despite SCD as medium-and short chain fatty acids undergo β-oxidation and produce acetyl CoA then ketogenesis as this patient has intact β-oxidation pathway (35). In this case, FAOD is considered to be a secondary metabolic disorder; because the overproduction of glutaric acid causes SCD as glutaric acid, like the other organic acids, is conjugated to free carnitine, and then excreted in urine as glutarylcarnitine.…”

Section: Discussionmentioning

confidence: 98%

“…This disorder results from the defi ciency in FAD-dependent glutaryl CoA dehydrogenase enzyme causes accumulation of many intermediates of some amino acids catabolism (lysine, hydroxylysine, and tryptophane) in the basal ganglia leading to movement disorders (35).…”

Section: Discussionmentioning

confidence: 99%

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Disorders associated with abnormal acylcarnitine profile among high risk Egyptian children

El-Mesellamy¹,

Gouda²,

Fateen³

et al. 2014

BLL

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Acylcarnitine profi le (ACP) is a useful tool in the biochemical diagnosis and monitoring of many acquired and inherited metabolic disorders. In the present study, acylcarnitines (ACs) were quantifi ed in dried blood spot samples collected from 150 high risk Egyptian newborns and children using LC/MS/MS technique. They were referred to the Biochemical Genetics department in the National Research Center. Their age ranged from 1 to 36 months. Thirty seven patients had abnormal ACP diagnostic of some inherited metabolic disorders and other acquired conditions. The study revealed 5 (13.5 %) with medium chain acyl CoA dehydrogenase defi ciency (MCADD), 1 (2.7 %) with long chain hydroxyacyl CoA dehydrogenase defi ciency (LCHADD), 1 (2.7 %) with multiple acyl CoA dehydrogenase defi ciency (MADD), 28 (75.7 %) with secondary carnitine defi ciency (SCD), 1 (2.7 %) with glutaric aciduria type I (GA I), and 1 (2.7 %) with methylmalonic aciduria (MMA) (Tab. 8, Ref. 39). Text in PDF www.elis.sk. Key words: inborn errors of metabolism, fatty acid oxidation disorders, acylcarnitine profi le, LC/MS/MS.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 98%

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Disorders associated with abnormal acylcarnitine profile among high risk Egyptian children

El-Mesellamy¹,

Gouda²,

Fateen³

et al. 2014

BLL

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“…A systematic literature search was performed by the authors and conducted in PubMed for publications between January 2000 up to May 2022, that report GCDH variants in GA1 patients. For this search the following MeSH terms were used: “glutaric aciduria type 1,” “glutaric acidemia type 1,” “glutaric aciduria type I,” “glutaric acidemia type I,” “glutaryl‐CoA dehydrogenase deficiency,” and “GCDH” 30–107 . References from selected articles from before the year 2000 with complete description of GA1 patients were also included.…”

Section: Methodsmentioning

confidence: 99%

Exploring genotype–phenotype correlations in glutaric aciduria type 1

Schuurmans

Dimitrov

Schröter

et al. 2023

J of Inher Metab Disea

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Glutaric aciduria type 1 (GA1) is a rare neurometabolic disease caused by pathogenic variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). We performed an extensive literature search to collect data on GA1 patients, together with unpublished cases, to provide an up-to-date genetic landscape of GCDH pathogenic variants and to investigate potential genotypephenotype correlation, as this is still poorly understood. From this search, 421 different GCDH pathogenic variants have been identified, including four novel variants; c.179T>C (p.Leu60Pro), c.214C>T (p.Arg72Cys), c.309G>C (p.Leu103Phe), and c.665T>C (p.Phe222Ser).The variants are mostly distributed across the entire gene; although variant frequency in GA1 patients is relatively high in the regions encoding for active domains of GCDH. To investigate potential genotype-phenotype correlations, phenotypic descriptions of 532 patients

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“…Psychological functions including intelligence for assessment at the general level of development, motor functions and language have been suggested. GA-1 was reported to be associated with hearing loss in isolated case reports [ 10 ]; the sparse number of reports may be due to the small patient population of GA-1 or insufficient newborn screening systems. To date, no study has explored otologic and audiological profiles in patients with GA-1.…”

Section: Introductionmentioning

confidence: 99%

Audiological and otologic manifestations of glutaric aciduria type I

Chen

Huang

Lee

et al. 2020

Orphanet J Rare Dis

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Background Glutaric aciduria type 1 (GA-1) is a rare disease connected with speech delay and neurological deficits. However, the audiological and otologic profiles of GA-1 have not yet been fully characterized. To our knowledge, this is the largest study of comprehensive audiological and otologic evaluation in patients with GA-1 to date. Methods Thirteen patients diagnosed with GA-1 between January 1994 and December 2019 with audiological, radiological and genetic manifestations were retrospectively analyzed. Hearing tests were performed in all patients. MRI was performed for radiological evaluation. Results Hearing loss was found in 76.9% (10/13) of GA-1 patients, including slight hearing loss in 46.1% (6/13) of patients, mild hearing loss in 15.4% (2/13) of patients, and moderate hearing loss in 7.7% (1/13) of patients. Normal hearing thresholds were seen in 23% (3/13) of patients. Patients with intensive care unit (ICU) admission history showed significantly worse hearing than those without (29.17 ± 12.47 vs 13.56 ± 3.93 dB HL, 95% CI 2.92–24.70, p = 0.0176). One patient had moderate sensorineural hearing loss and a past history of acute encephalopathic crisis. No usual causative gene mutations associated with hearing loss were found in these patients. MRI showed a normal vestibulocochlear apparatus and cochlear nerve. One patient with extensive injury of the basal ganglia on MRI after acute encephalopathic crisis was found to have moderate sensorineural hearing loss. Two patients with disability scores above 5 were found to have mild to moderate hearing impairment. No obvious correlation between macrocephaly and hearing loss was found. Conclusion A high prevalence of hearing impairment is found in GA-1 patients. Adequate audiological evaluation is essential for these patients, especially for those after encephalopathic crises or with ICU admission history.

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Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations

Cited by 6 publications

References 9 publications

Disorders associated with abnormal acylcarnitine profile among high risk Egyptian children

Disorders associated with abnormal acylcarnitine profile among high risk Egyptian children

Exploring genotype–phenotype correlations in glutaric aciduria type 1

Audiological and otologic manifestations of glutaric aciduria type I

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