Posts Categorized: Newborn screening



Organic acidurias: impact of age at onset and NBS

Posted by & filed under Newborn screening, Part 09: ORGANIC ACIDS.

The information of 567 patients with organic acidurias (OADs) from the E-IMD registry were analysed using recursive partitioning of diagnostic and therapeutic strategies, and odds ratios (OR) for health outcome parameters. Different OADs were included in this study: methylmalonic (MMA, n=164), propionic (PA, n=144), isovaleric (IVA, n=83), and type 1 glutaric aciduria (GA1, n=176). Of […]



Positive newborn screens for C5OH

Posted by & filed under Newborn screening, Part 09: ORGANIC ACIDS.

There is much debate as to the clinical significance of 3-methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency). In thinking about this issue, I recently read a paper by Arnold et al, (Mol Genet Metab. 2012 Aug;106(4):439-41)  that describes their retrospective analysis of 35 cases of 3-MCC deficiency identified by newborn screening and confirmed by enzyme and/or molecular analysis. One of the most […]



Newborn screening cards and tranport concerns

Posted by & filed under Newborn screening, _.

The effects of environmental temperature on newborn screening results for galactosemia are well known amongst biochemical geneticists. However, environmental effects on many other aspects of the newborn screen are not commonly known. Golbahar et al (J Med Screen, 2014, Feb) studied the effect of heat and humidity on acylcarnitines and amino acids on dried blood spots […]



Archived neonatal dried blood spot samples for accurate whole genome sequencing

Posted by & filed under Exome sequencing, Newborn screening, Part 06: DIAGNOSTIC APPROACHES.

Hollegaard et al. have demonstrated in the past that DNA extracted from a fraction (2 × 3.2 mm discs) of an archived Dried blood spot sample (DBSS) can be whole genome amplified (wgaDNA) and used for accurate array genotyping. In this study, they compared whole-blood DNA next-generation sequencing (NGS) results to results from DBSS and concluded that DBSS […]



Nitisinone (NTBC) in Hepatorenal tyrosinemia

Posted by & filed under Newborn screening, Treatment.

Hepatorenal tyrosinemia (HT1, fumarylacetoacetate hydrolase deficiency), can cause severe hepatic, renal and peripheral nerve damage. The clinical course of 78 patients was studied in Quebec. Of note, in Quebec HT1 is more frequent and is part of the neonatal screening program. Nitisinone (NTBC) inhibits tyrosine degradation prior to the formation of toxic metabolites like succinylacetone […]



The benefits of screening for MCAD

Posted by & filed under Newborn screening, Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase defi ciency in Australia: a cohort study Bridget Wilcken, Marion Haas, Pamela Joy, Veronica Wiley, Meredyth Chaplin, Carly Black, Janice Fletcher, Jim McGill, Avihu Boneh Lancet 2007; 369: 37–42 This large australian study compared a population of children who were screened for MCAD and an unscreened population. […]



Urinary screening for Fabry disease

Posted by & filed under Newborn screening, Part 06: DIAGNOSTIC APPROACHES, Part 16: LYSOSOMAL DISORDERS.

Screening for Fabry disease on urine collected by filter paper might eventually become a reality with the method referred to in this short report: Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease C. Auray-Blais, D. Cyr, K. Mills, R. Giguère and R. Drouin J Inherit Metab […]



High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening

Posted by & filed under Newborn screening, Part 02: PERSPECTIVES, Part 16: LYSOSOMAL DISORDERS.

Am. J. Hum. Genet., 79:000, 2006 High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone, and Robert J. Desnick In this article, alpha-galactosidase A activity was assayed in newborn screening blood spots of Italian male neonates. This study revealed a […]