Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany
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Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany. / Hoffmann, Georg F; von Kries, Rüdiger; Klose, Daniela; Lindner, Martin; Schulze, Andreas; Muntau, Ania C; Röschinger, Wulf; Liebl, Bernhard; Mayatepek, Ertan; Roscher, Adelbert A.
in: EUR J PEDIATR, Jahrgang 163, Nr. 2, 02.2004, S. 76-80.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany
AU - Hoffmann, Georg F
AU - von Kries, Rüdiger
AU - Klose, Daniela
AU - Lindner, Martin
AU - Schulze, Andreas
AU - Muntau, Ania C
AU - Röschinger, Wulf
AU - Liebl, Bernhard
AU - Mayatepek, Ertan
AU - Roscher, Adelbert A
PY - 2004/2
Y1 - 2004/2
N2 - UNLABELLED: The lack of epidemiological data on the frequency and/or burden of organic acidurias (OA) and mitochondrial fatty acid transport and oxidation disorders (mtFATOD) is one reason for hesitation to expand newborn screening (NBS) by tandem mass spectrometry (MS-MS). From 1999 to 2000, the frequency of ten potentially treatable OA and mtFATOD was assessed by active nation-wide surveillance on cases presenting with clinical symptoms using the German Paediatric Surveillance Unit (ESPED) system. Case ascertainment was complemented by a second independent source: 3-monthly inquiries in the metabolic laboratories performing secondary selected screening for OA and mtFATOD. Frequency estimates for clinically symptomatic cases older than 7 days in a birth cohort of 844,575 conventionally screened children was compared to the frequency found in a cohort of 382,247 screened by MS-MS in Bavaria and Baden-Württemberg. The overall frequency of the ten conditions considered was 1:8,000 (95% CI 1:11,000-1:6,000) by MS-MS as compared to 1:23,000 (95% CI 1:36,000-1:17,000) in symptomatic cases presenting mainly with metabolic crisis. The contributions of medium-chain acyl-CoA dehydrogenase deficiency (MCADD), other mtFATOD and OA were 29, 4 and 13 among the 46 cases identified by MS-MS, and 19, 1 and 13 among the 33 clinically symptomatic cases, respectively. Acute metabolic crisis, with a lethal outcome in four patients, was reported for 22/33 clinically symptomatic cases. No clinically symptomatic cases were reported from cohorts with screened by MS-MS.CONCLUSION: ten potentially treatable organic acidurias and mitochondrial fatty acid transport and oxidations disorders were more common than phenylketonuria with organic acidurias accounting for 28% of the cases detected by newborn screening and 39% of the cases identified on high risk screening. These conditions were related to considerable morbidity and mortality. Considerations for their inclusion in expanded newborn screening programmes might be warranted.
AB - UNLABELLED: The lack of epidemiological data on the frequency and/or burden of organic acidurias (OA) and mitochondrial fatty acid transport and oxidation disorders (mtFATOD) is one reason for hesitation to expand newborn screening (NBS) by tandem mass spectrometry (MS-MS). From 1999 to 2000, the frequency of ten potentially treatable OA and mtFATOD was assessed by active nation-wide surveillance on cases presenting with clinical symptoms using the German Paediatric Surveillance Unit (ESPED) system. Case ascertainment was complemented by a second independent source: 3-monthly inquiries in the metabolic laboratories performing secondary selected screening for OA and mtFATOD. Frequency estimates for clinically symptomatic cases older than 7 days in a birth cohort of 844,575 conventionally screened children was compared to the frequency found in a cohort of 382,247 screened by MS-MS in Bavaria and Baden-Württemberg. The overall frequency of the ten conditions considered was 1:8,000 (95% CI 1:11,000-1:6,000) by MS-MS as compared to 1:23,000 (95% CI 1:36,000-1:17,000) in symptomatic cases presenting mainly with metabolic crisis. The contributions of medium-chain acyl-CoA dehydrogenase deficiency (MCADD), other mtFATOD and OA were 29, 4 and 13 among the 46 cases identified by MS-MS, and 19, 1 and 13 among the 33 clinically symptomatic cases, respectively. Acute metabolic crisis, with a lethal outcome in four patients, was reported for 22/33 clinically symptomatic cases. No clinically symptomatic cases were reported from cohorts with screened by MS-MS.CONCLUSION: ten potentially treatable organic acidurias and mitochondrial fatty acid transport and oxidations disorders were more common than phenylketonuria with organic acidurias accounting for 28% of the cases detected by newborn screening and 39% of the cases identified on high risk screening. These conditions were related to considerable morbidity and mortality. Considerations for their inclusion in expanded newborn screening programmes might be warranted.
KW - Acyl-CoA Dehydrogenase/deficiency
KW - Amino Acid Metabolism, Inborn Errors/diagnosis
KW - Brain Diseases, Metabolic, Inborn/diagnosis
KW - Germany/epidemiology
KW - Humans
KW - Infant, Newborn
KW - Maple Syrup Urine Disease/diagnosis
KW - Neonatal Screening/methods
U2 - 10.1007/s00431-003-1246-3
DO - 10.1007/s00431-003-1246-3
M3 - SCORING: Journal article
C2 - 14714182
VL - 163
SP - 76
EP - 80
JO - EUR J PEDIATR
JF - EUR J PEDIATR
SN - 0340-6199
IS - 2
ER -