High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots
Aromatic l-amino-acid decarboxylase (AADC) deficiency is an inherited disorder of biogenic amine metabolism with a broad neurological phenotype. The clinical symptoms overlap with other diseases resulting in an often delayed diagnosis. Innovative disease-changing treatment options, particularly gene...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
2020
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| In: |
Journal of inherited metabolic disease
Year: 2019, Volume: 43, Issue: 3, Pages: 602-610 |
| ISSN: | 1573-2665 |
| DOI: | 10.1002/jimd.12208 |
| Online Access: | Verlag, kostenfrei, Volltext: https://doi.org/10.1002/jimd.12208 Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12208 
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| Author Notes: | Heiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, Sven F. Garbade, Steffen Syrbe, Patrik Feyh, Stefan Kölker, Jürgen G. Okun, Georg F. Hoffmann, Thomas Opladen |
MARC
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| 245 | 1 | 0 | |a High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots |c Heiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, Sven F. Garbade, Steffen Syrbe, Patrik Feyh, Stefan Kölker, Jürgen G. Okun, Georg F. Hoffmann, Thomas Opladen |
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| 520 | |a Aromatic l-amino-acid decarboxylase (AADC) deficiency is an inherited disorder of biogenic amine metabolism with a broad neurological phenotype. The clinical symptoms overlap with other diseases resulting in an often delayed diagnosis. Innovative disease-changing treatment options, particularly gene therapy, have emphasised the need for an early diagnosis. We describe the first method for 3-O-methyldopa (3-OMD) analysis in dried blood spots (DBS) suitable for high throughput newborn screening (NBS). We established a novel tandem mass spectrometry method to quantify 3-OMD in DBS and successfully tested it in 38 888 unaffected newborns, 14 heterozygous DDC variant carriers, seven known AADC deficient patients, and 1079 healthy control subjects. 3-OMD concentrations in 38 888 healthy newborns revealed a mean of 1.16 μmol/L (SD = 0.31, range 0.31-4.6 μmol/L). 1079 non-AADC control subjects (0-18 years) showed a mean 3-OMD concentration of 0.78 μmol/L (SD = 1.75, range 0.24-2.36 μmol/L) with a negative correlation with age. Inter- and intra-assay variability was low, and 3-OMD was stable over 32 days under different storage conditions. We identified seven confirmed AADC deficient patients (mean 3-OMD 9.88 μmol/L [SD = 13.42, range 1.82-36.93 μmol/L]). The highest concentration of 3-OMD was found in a NBS filter card of a confirmed AADC deficient patient with a mean 3-OMD of 35.95 μmol/L. 14 DDC variant carriers showed normal 3-OMD concentrations. We demonstrate a novel high-throughput method to measure 3-OMD in DBS, which allows integration in existing NBS programs enabling early diagnosis of AADC deficiency. | ||
| 534 | |c 2019 | ||
| 650 | 4 | |a 3-O-methyldopa | |
| 650 | 4 | |a AADC deficiency | |
| 650 | 4 | |a dried blood spot | |
| 650 | 4 | |a newborn screening | |
| 650 | 4 | |a tandem mass spectrometry | |
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