Severe neonatal jaundice due to a <i>de novo</i> glucose‐6‐phosphate dehydrogenase deficient mutation

Barreto, Roberta; Arrizabalaga, Beatriz; Hoz, Ana Belén de la; Aragües, P.; García‐Ruiz, Juan Carlos; Arrieta, Ana; Adan, R.; Manco, Licínio; Macedo-Ribeiro, Sandra; Bento, Celeste; Ribeiro, Maria Letı́cia

doi:10.1111/ijlh.12455

Int J Lab Hematology

2015

DOI: 10.1111/ijlh.12455

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Severe neonatal jaundice due to a de novo glucose‐6‐phosphate dehydrogenase deficient mutation

Roberta Barreto

Beatriz Arrizabalaga

Ana Belén de la Hoz

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Cited by 3 publications

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References 7 publications

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“…In conclusion, we highlight four main points: (a) a clinical picture of the patient and residual enzymatic activity are of primary importance for the definitive classification of each G6PD variant; (b) sequencing of the entire G6PD gene is mandatory especially in those patients from peculiar Italian regions; (c) the use of next-generation sequencing in G6PD-deficient subjects to diagnose common, rare and novel G6PD variants is now suggested, 11 and finally, (d) G6PD is confirmed to be a gene prone to de novo events, as reported. 12–17 …”

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Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence

et al. 2018

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G6PD deficiency is quite common in Italy where it is characterized by extreme molecular and biochemical heterogeneity. We report a 15-year-old Italian boy with G6PD Nilgiri (c.593G>A, p.Arg198His), a typical Indian variant of the Nilgiris tribal groups. Further, this variant was biochemically characterized, and the molecular screening of the family highlighted a de novo mutational event. To date, this family is the first Caucasian family carrying the G6PD Nilgiri variant.

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Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence

et al. 2018

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Aproximación diagnóstica de los errores innatos del metabolismo en la unidad de cuidado intensivo neonatal: acidosis metabólica, hiperamonemia e hipoglicemia

Mora-Barreto

Süárez-Obando

2017

biosalud

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Los errores innatos del metabolismo del neonato son enfermedades que requieren una intervención temprana, dado que el manejo oportuno permite la prevención de secuelas severas o desenlaces fatales. Sin embargo, su diagnóstico se dificulta debido a las múltiples manifestaciones clínicas inespecíficas que lo acompañan y a las diversas alteraciones metabólicas que afectan la lectura de los estudios paraclínicos de rutina; sin embargo, una aproximación sistemática que tenga en cuenta las variaciones del metabolismo intermedio, interpretadas a través de pruebas básicas de laboratorio, permite alcanzar en la mayoría de los casos, un diagnóstico certero. La aproximación aquí propuesta se basa en la interpretación de tres estados metabólicos: acidosis metabólica, hiperamonemia e hipoglicemia, y su relación con los resultados de tests de laboratorio que están a la mano en la mayoría de unidades de neonatología. Se plantean diversas recomendaciones en relación a valores normales, flujogramas diagnósticos y recomendaciones sobre toma y conservación de muestras.

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Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia: Insights on Pathophysiology, Diagnosis, and Gene Variants in Disease Heterogeneity

et al. 2022

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a prevalent condition worldwide and is caused by loss-of-function mutations in the G6PD gene. Individuals with deficiency are more susceptible to oxidative stress which leads to the classical, acute hemolytic anemia (favism). However, G6PD deficiency in newborn infants presents with an increased risk of hyperbilirubinemia, that may rapidly escalate to result in bilirubin induced neurologic dysfunction (BIND). Often with no overt signs of hemolysis, G6PD deficiency in the neonatal period appears to be different in the pathophysiology from favism. This review discusses and compares the mechanistic pathways involved in these two clinical presentations of this enzyme disorder. In contrast to the membrane disruption of red blood cells and Heinz bodies formation in favism, G6PD deficiency causing jaundice is perhaps attributed to the disruption of oxidant-antioxidant balance, impaired recycling of peroxiredoxin 2, thus affecting bilirubin clearance. Screening for G6PD deficiency and close monitoring of affected infants are important aspects in neonatal care to prevent kernicterus, a permanent and devastating neurological damage. WHO recommends screening for G6PD activity of all infants in countries with high prevalence of this deficiency. The traditional fluorescent spot test as a screening tool, although low in cost, misses a significant proportion of cases with moderate deficiency or the partially deficient, heterozygote females. Some newer and emerging laboratory tests and diagnostic methods will be discussed while developments in genomics and proteomics contribute to increasing studies that spatially profile genetic mutations within the protein structure that could predict their functional and structural effects. In this review, several known variants of G6PD are highlighted based on the location of the mutation and amino acid replacement. These could provide insights on why some variants may cause a higher degree of phenotypic severity compared to others. Further studies are needed to elucidate the predisposition of some variants toward certain clinical manifestations, particularly neonatal hyperbilirubinemia, and how some variants increase in severity when co-inherited with other blood- or bilirubin-related genetic disorders.

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Severe neonatal jaundice due to a de novo glucose‐6‐phosphate dehydrogenase deficient mutation

Cited by 3 publications

References 7 publications

Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence

Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence

Aproximación diagnóstica de los errores innatos del metabolismo en la unidad de cuidado intensivo neonatal: acidosis metabólica, hiperamonemia e hipoglicemia

Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia: Insights on Pathophysiology, Diagnosis, and Gene Variants in Disease Heterogeneity

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