Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients

Gupta, Neerja; Singh, Pawan Kumar; Kumar, Manoj; Shastri, Shivaram; Gulati, Sheffali; Kumar, Atin; Agarwala, Anuja; Kapoor, Seema; Nair, Mohandas; Sapra, Savita; Dubey, Sudhisha; Singh, Ankur; Kaur, Punit; Kabra, Madhulika

doi:10.1007/8904_2014_377

Cited by 27 publications

(29 citation statements)

References 35 publications

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“…Homozygous mutation of c.572T>C (p.M191T) as in our case first was reported in 1998 in a male patient with German origin with <0.5% residual enzyme activity (Schwartz et al 1998). The disease exhibits clinical variability which has a correlation with differently altered enzymatic activities due to the different positions of pathogenic variants in GCDH gene (Gupta et al 2014). We weren't able to analyze the residual enzyme activity for our case due to financial problems.…”

Section: Discussionmentioning

confidence: 51%

“…Dystonia and hypotonia were not existed in our case at the time of diagnosis. Macrocephaly is a constant feature and can be present at birth or a rapid increase of head circumference can take place after birth with an estimated frequency of 65-75% reported in patients with GA-1, however microcephaly can be observed in patients with GA-1 during the first 8 months of life and besides there were cases reported without macrocephaly (Baradaran et al 2014;Gupta et al 2014;Wang et al 2014). There is no association between macrocephaly and outcome whereas in some cases the frequency of macrocephaly was higher in mild impairment group than severe one, leading to an early diagnosis by macrocephaly (Mushimoto et al 2011).…”

Section: Discussionmentioning

confidence: 99%

“…R402W and E181Q mutations are more prevalent than the other types (Baradaran et al 2014;Gupta et al 2014). There is no data about the types of common genetic mutations responsible for GA-1 in Turkey.…”

Section: Discussionmentioning

confidence: 99%

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Glutaric Acidemia Type 1: A Case of Infantile Stroke

et al. 2017

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Section: Discussionmentioning

confidence: 51%

Section: Discussionmentioning

confidence: 99%

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Glutaric Acidemia Type 1: A Case of Infantile Stroke

et al. 2017

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“…It is also probable that it is second common organic acidemia in India after methylmalonic acidemia [4]. Little is known about the prevalence of GA1 in the Middle East countries where no established new-born screening programs exist.…”

Section: Figure 1: Brain Mri Scans Of the Boy (A) The Girl (B) And Tmentioning

confidence: 99%

A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report

Hamed¹,

Elseed²,

Masoud³

et al. 2017

EJMCR

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“…On the other hand, less serious pathogenic variants preserve a suffi cient residual enzyme activity and therefore the excretion of glutaric acid (GA) can be elevated only mildly or can be even normal (7,8). Based on biochemical fi ndings, the amount of excreted GA and enzyme activities, two subgroups of GAI patients can be distinguished.…”

Section: Introductionmentioning

confidence: 99%

GAI – distinct genotype and phenotype characteristics in reported Slovak patients

Lisyová¹,

Petrovič²,

Juříčková³

et al. 2017

BLL

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OBJECTIVES: The clinical, biochemical and genetic fi ndings in two Slovak patients with glutaric aciduria type I (GAI) are presented. BACKGROUND: GAI is a rare autosomal recessive neuro-metabolic disorder caused by defi ciency of glutarylCoA dehydrogenase, which is involved in the catabolic pathways of lysine, hydroxylysine and tryptophan. This enzymatic defect gives rise to elevated levels of glutaric acid (GA), 3-hydroxyglutaric acid (3-OH-GA) and glutarylcarnitine (C5DC) in body fl uids. METHODS: Biochemical and molecular-genetic tests were performed. Urinary organic acids were analysed by Gas Chromatography/Mass Spectrometry (GC/MS) and the entire coding region of the GCDH gene, including fl anking parts, was sequenced. RESULTS: We found the presence of typical metabolic profi le and novel causal pathogenic variants in both GAI patients. CONCLUSION: We present the fi rst report of two Slovak patients with GAI, which differed in the clinical and biochemical phenotype signifi cantly. They were diagnosed by two distinct approaches -selective and newborn screening. Their diagnosis was complexly confi rmed by biochemical and later on molecular-genetic examinations. Though we agreed with a thesis that early diagnostics might positively infl uenced patientʼs health outcome, contradictory facts should be considered. Supposed extremely low prevalence of GAI patients in the general population and/or the existence of asymptomatic individuals with a questionable benefi t of the applied therapeutic intervention for them lead to doubts whether the inclusion of disease into the newborn screening programme is justifi ed well enough (Tab. 1, Fig. 3

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Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients

Abstract: Glutaric acidemia I (GA

Cited by 27 publications

References 35 publications

Glutaric Acidemia Type 1: A Case of Infantile Stroke

Glutaric Acidemia Type 1: A Case of Infantile Stroke

A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report

GAI – distinct genotype and phenotype characteristics in reported Slovak patients

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