Early Detection of Glutaric Aciduria Type I by Newborn Screening in Taiwan

Hsieh, Chin-Tung; Hwu, Wuh‐Liang; Huang, Yuan-Te; Huang, An; Wang, Shiao-Fang; Hu, Min-Huei; Chien, Yin‐Hsiu

doi:10.1016/s0929-6646(08)60127-8

Cited by 20 publications

(10 citation statements)

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“…The other patient, who only had lateral limbs dyskinesia without encephalopathic crisis, showed remarkable MRI changes. Hsieh et al [12] also reported subtle basal ganglia lesions in a patient who did not experience any frank encephalopathic crisis. Long-term outcomes of these asymptomatic patients with obvious brain MRI changes are still under evaluation, and close monitoring of these patients is required.…”

Section: Discussionmentioning

confidence: 99%

“…As reported by Kölker et al, [2] the frequency of acute encephalopathic crises is lower in pre-symptomatically diagnosed patients treated with Lys-restriction than with restricted protein diet; therefore, we recommended Lys-restricted combined with protein restriction for all the patients. Emergent treatment is considered essential to prevent encephalopathic crises during intercurrent illness [8,12,13]. Intercurrent illness management is the focus of GA I treatment [4], which may be accompanied with hypoglycemia, hypokalemia, ketosis, acidosis, and hyperammonemia, as well as other neurological complications.…”

Section: Discussionmentioning

confidence: 99%

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Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China

et al. 2011

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SummaryBackgroundGlutaric aciduria type I (GA I; MIM 231670) is a rare autosomal recessive disorder resulting from glutaryl-CoA dehydrogenase deficiency. This article reports our experience in the diagnosis, treatment and outcome of GA I patients in Zhejiang Province, China.Material/MethodsA total of 129,415 newborns (accounting for approximately one-tenth of the annual births in Zhejiang Province) and 9640 high-risk infants were screened for inborn errors of metabolism in the Neonatal Screening Center of Zhejiang Province during a 3-year period. Tandem mass spectrometry and gas chromatography-mass spectrometry were used for diagnosis of the patients. Dietary modification, carnitine supplementation and aggressive treatment of intercurrent illnesses were adapted for GA I patients.ResultsThree infants were diagnosed with GA I by high-risk screening (detection rate: 1/3,213) and 2 were diagnosed by newborn screening (incidence: 1/64,708). Four patients (3 by high-risk screening and 1 by neonatal screening) undergoing MRI examination showed remarkable changes on T2-weighted image. Four patients accepted timely treatment, and in the patient diagnosed by neonatal screening, treatment was delayed until hypotonia appeared 3 months later. Neuropsychological assessment showed mental and motor retardation in 3 patients after treatment, including the patient diagnosed by neonatal screening.ConclusionsIndividualized timely treatment and close monitoring of GA I patients needs to be optimized in China. Appropriate communication with parents may help to achieve successful management of GA I patients.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China

et al. 2011

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“…Mutation of IVS10-2A>C (c.1244-2A>C) in children was reported in Taiwan, and also one IVS10-2A>C carrier was detected among 120 normal persons. In our study, four parents were carriers of c.1244-2A>C mutation, which would probably be hot mutation site in Chinese [13][14][15] . The c.1244-2A>C mutation causes splicing error in 10th intron and 11th exon, resulting in deletion of 5 ' terminal of 11th exon, which make GCDH enzyme activity disappeared.…”

Section: Discussionmentioning

confidence: 99%

Clinical and mutational spectrum of 4 Chinese families with glutaric aciduria type 1

Shi

Shao

Zheng

et al. 2019

Preprint

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Background To investigate clinical presentation and molecular aspects of five patients suffered from glutaric aciduria type I (GA-I ), a rare neurometabolic disorder caused by glutaryl-CoA dehydrogenase deficiency due to GCDH gene mutations. Methods All five patients were diagnosed by elevated urinary glutaric acid and GCDH gene analysis. Low protein diet supplemented with special formula, GABA analog and L-carnitine were initialed following laboratory confirmation of diagnosis. The clinical and biochemical features were analyzed, and mutational analysis of GCDH was conducted using Sanger sequencing. Results Clinical manifestations of 5 patients varied from macrocephaly to severe encephalopathy, with notably different phenotype between siblings with the same mutations. Three members present complex heterozygous mutations, while two sisters present homozygous mutations. Among them, four mutations in GCDH were identified (c.1133C>T 、c.1244-2A>C 、c.339delT 、c.406G>T). Of these four mutations, c.1244- 2A>C was found in four patients and c.339delT and c.1133C>T has not yet been reported until now. Conclusions In 5 Chinese patients with GA1, two novel mutations of GCDH gene were identified, which may expand the mutation spectrum of GCDH gene. What we found confirm that there is no correlation between clinical phenotype and genotype in GA-I patients, and c.1244-2A>C may be mutation hotspot in Southern China.

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“…Durante la hospitalización se detectó la presencia de megalencefalia, que en la AG-1 puede estar presente desde el nacimiento o desarrollarse en las primeras semanas o meses de vida, con lo que se convierte en el signo de aparición más precoz (1,4,9,10).…”

Section: Discussionunclassified

Acidemia glutárica tipo 1: presentación de un caso y revisión de la literatura

Sánchez

Peña

García

et al. 2015

iatreia

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Early Detection of Glutaric Aciduria Type I by Newborn Screening in Taiwan

Abstract: With properly established cut-offs, GA1 can be successfully screened for in populations with a low incidence of the disease. Early treatment is likely to improve the outcome of cases discovered by screening.

Cited by 20 publications

References 19 publications

Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China

Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China

Clinical and mutational spectrum of 4 Chinese families with glutaric aciduria type 1

Acidemia glutárica tipo 1: presentación de un caso y revisión de la literatura

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