Citrullinemia Type I, Classical Variant. Identification of ASS∼p.G390R (c.1168G&gt;A) mutation in families of a limited geographic area of Argentina: A possible population cluster

Laróvere, Laura E.; Angaroni, Celia J.; Antonozzi, Sandra L.; Bezard, Miriam; Shimohama, Mariko; Kremer, Raquel Dodelson de

doi:10.1016/j.clinbiochem.2009.03.024

Cited by 14 publications

(21 citation statements)

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“…The molecular ASS1 gene analysis in probands and relatives of involved families (cascade screening) showed the same mutation: p.G390R (Laróvere et al 2009). Here, we widen our previous study in relation to the number of probands and also describe results from cascade screening.…”

Section: Introductionmentioning

confidence: 82%

“…All the cases presented the severe phenotype including hyperammoniemia, metabolic coma, and early death. The molecular analysis of 8 of them has been reported previously (Laróvere et al 2009). …”

Section: Patientsmentioning

confidence: 99%

“…Exon 15 of ASS1 gene and the flanking intron-exon junction were amplified and digested with MspI according to the method described previously (Laróvere et al 2009). …”

Section: Dna Diagnosismentioning

confidence: 99%

“…1 Genetic pedigree of the studied families with CTLN1. Probands are indicated by arrows; ns not studied subject; modified from Laróvere et al (2009) …”

Section: The Basis For a Preconception Screeningmentioning

confidence: 99%

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Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection

et al. 2012

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Classical citrullinemia type I (CTLN1) is an autosomal recessive disorder encoded by the ASS1 gene, which codes for argininosuccinate synthetase (ASS), the rate-limiting enzyme in the urea cycle. Previously, we identified the mutation p.G390R in patients with CTLN1 in the San Luis Province of Argentina. Here, we report the results of p.G390R analysis in a larger number of probands, relatives of involved families and additionally, a population study to identify carriers. Altogether, we analyzed 420 alleles, belonging to 12 probands, 26 relatives, and 172 healthy volunteers. All the probands were homozygous for the mutation, and 21 of 26 relatives were carriers. The occurrence of the disease in descendants of couples at risk was 57% showing a preferential transmission of the mutant allele compared to the normal allele. The carrier frequency in the general San Luis Province population was 4.1%, suggesting the incidence of CTLN1 to be 1:2,427, which is approximately 20 times higher than for the general population. This work suggests that there should be an increased awareness of preconceptual screening of CTNL1 among individuals/couples who are at risk in the San Luis Province in order to better inform them of their reproductive options.Cascade/family and population molecular screening for carrier identification were performed in an Argentinean province with high incidence of CTLN1, a first step to preconceptional screening.

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Section: Introductionmentioning

confidence: 82%

Section: Patientsmentioning

confidence: 99%

“…Exon 15 of ASS1 gene and the flanking intron-exon junction were amplified and digested with MspI according to the method described previously (Laróvere et al 2009). …”

Section: Dna Diagnosismentioning

confidence: 99%

“…1 Genetic pedigree of the studied families with CTLN1. Probands are indicated by arrows; ns not studied subject; modified from Laróvere et al (2009) …”

Section: The Basis For a Preconception Screeningmentioning

confidence: 99%

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Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection

et al. 2012

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“…La segunda se reportó en Argentina asociada a una forma grave neonatal. 8,9 Con el diagnóstico de citrulinemia I, comenzó el tratamiento con flujo de glucosa, arginina…”

Section: Caso Clínicounclassified

Citrulinemia tipo I con insuficiencia hepática recurrente en un niño

Bindi

Eiroa

2017

Arch Argent Pediat

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Presentación de casos clínicos RESUMENLa citrulinemia tipo I es un desorden autosómico recesivo causado por la mutación del gen ASS1, que expresa argininosuccinato sintetasa, enzima limitante del ciclo de la urea. Las variantes clásicas están asociadas con la forma neonatal/ infantil, que llevan a hiperamoniemia y a la muerte si el tratamiento no es instaurado. Los síntomas iniciales de los trastornos del ciclo de la urea incluyen deterioro neurológico con leve o moderado daño hepático. Reportamos un caso de falla hepática recurrente en un lactante con diagnóstico de citrulinemia tipo I sin compromiso neurológico grave, que fue derivado a nuestro centro para trasplante hepático. La falla hepática aguda puede ser causada por una gran variedad de desórdenes, dentro de los que se incluyen errores congénitos del metabolismo. El tratamiento adecuado de los trastornos del ciclo de la urea y, en particular, la citrulinemia I puede evitar la necesidad de un trasplante. Palabras clave: citrulinemia, trastornos innatos del ciclo de la urea, falla hepática, pediatría, trasplante hepático. ABSTRACTCitrullinemia type I is an autosomal recessive disorder caused by mutation of the gene expressing ASS1 argininosuccinate synthetase, limiting enzyme of the urea cycle. The classic variants are associated with neonatal/infantile forms that cause hyperammonemia leading to death if treatment is not established. Initial symptoms of disorders of the urea cycle include neurological impairment with mild or moderate liver damage. We report a case of recurrent liver failure in an infant diagnosed with type I citrullinemia without severe neurological involvement that was referred to our center for liver transplantation. Acute liver failure can be caused by a wide range of disorders in which inborn errors of metabolism are included. Appropriate treatment of disorders of the urea cycle and in particular citrullinemia I can avoid the need for a transplant. Citrulinemia tipo I con insuficiencia hepática recurrente en un niño Citrullinemia type I with recurrent liver failure in a child INTRODUCCIÓNLa citrulinemia tipo I es un trastorno del ciclo de la urea causado por la deficiencia de argininosuccinato sintetasa, cuya función e s c o n v e r t i r l a c i t r u l i n a y a s p a r t a t o e n argininosuccinato.

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Disorders of Metabolism of Amino Acids and Related Compounds

Arnold

Vockley

2015

Genetic Disorders and the Fetus

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Citrullinemia Type I, Classical Variant. Identification of ASS∼p.G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: A possible population cluster

Cited by 14 publications

References 5 publications

Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection

Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection

Citrulinemia tipo I con insuficiencia hepática recurrente en un niño

Disorders of Metabolism of Amino Acids and Related Compounds

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