Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families
Glutaric aciduria type I (GA-1) is a rare autosomal-recessive disorder of the degradation of the amino acids lysine and tryptophan caused by mutations of the <i>GCDH</i> gene encoding glutaryl-CoA-dehydrogenase. Newborn screening (NBS) for this condition is based on elevated levels of gl...
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2021-06-01T00:00:00Z.
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| LEADER | 00000 am a22000003u 4500 | ||
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| 001 | doaj_00cca2b73ee941ecb017aaf1e5b7dfb6 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Johannes Spenger |e author |
| 700 | 1 | 0 | |a Esther M. Maier |e author |
| 700 | 1 | 0 | |a Katharina Wechselberger |e author |
| 700 | 1 | 0 | |a Florian Bauder |e author |
| 700 | 1 | 0 | |a Melanie Kocher |e author |
| 700 | 1 | 0 | |a Wolfgang Sperl |e author |
| 700 | 1 | 0 | |a Martin Preisel |e author |
| 700 | 1 | 0 | |a Katharina A. Schiergens |e author |
| 700 | 1 | 0 | |a Vassiliki Konstantopoulou |e author |
| 700 | 1 | 0 | |a Wulf Röschinger |e author |
| 700 | 1 | 0 | |a Johannes Häberle |e author |
| 700 | 1 | 0 | |a Thomas Schmitt-Mechelke |e author |
| 700 | 1 | 0 | |a Saskia B. Wortmann |e author |
| 700 | 1 | 0 | |a Ralph Fingerhut |e author |
| 245 | 0 | 0 | |a Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families |
| 260 | |b MDPI AG, |c 2021-06-01T00:00:00Z. | ||
| 500 | |a 10.3390/ijns7020032 | ||
| 500 | |a 2409-515X | ||
| 520 | |a Glutaric aciduria type I (GA-1) is a rare autosomal-recessive disorder of the degradation of the amino acids lysine and tryptophan caused by mutations of the <i>GCDH</i> gene encoding glutaryl-CoA-dehydrogenase. Newborn screening (NBS) for this condition is based on elevated levels of glutarylcarnitine (C5DC) in dried blood spots (DBS). Here we report four cases from three families in whom a correctly performed NBS did not detect the condition. Glutarylcarnitine concentrations were either normal (slightly below) or slightly above the cut-off. Ratios to other acylcarnitines were also not persistently elevated. Therefore, three cases were defined as screen negative, and one case was defined as normal, after a normal control DBS sample. One patient was diagnosed after an acute encephalopathic crisis, and the other three patients had an insidious onset of the disease. GA-1 was genetically confirmed in all cases. Despite extensive efforts to increase sensitivity and specificity of NBS for GA-1, by adjusting cut-offs and introducing various ratios, the biological diversity still leads to false-negative NBS results for GA-1. | ||
| 546 | |a EN | ||
| 690 | |a glutaric aciduria type 1 | ||
| 690 | |a newborn screening | ||
| 690 | |a glutaryl-carnitine | ||
| 690 | |a glutaric acid | ||
| 690 | |a 3-hydroxyglutaric acid | ||
| 690 | |a <i>GCDH</i> gene | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n International Journal of Neonatal Screening, Vol 7, Iss 2, p 32 (2021) | |
| 787 | 0 | |n https://www.mdpi.com/2409-515X/7/2/32 | |
| 787 | 0 | |n https://doaj.org/toc/2409-515X | |
| 856 | 4 | 1 | |u https://doaj.org/article/00cca2b73ee941ecb017aaf1e5b7dfb6 |z Connect to this object online. |