UNIVERSI
TÄ
TS-
BIBLIOTHEK
P
ADERBORN
Anmelden
Menü
Menü
Start
Hilfe
Blog
Weitere Dienste
Neuerwerbungslisten
Fachsystematik Bücher
Erwerbungsvorschlag
Bestellung aus dem Magazin
Fernleihe
Einstellungen
Sprache
Deutsch
Deutsch
Englisch
Farbschema
Hell
Dunkel
Automatisch
Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist
gegebenenfalls
nur via VPN oder Shibboleth (DFN-AAI) möglich.
mehr Informationen...
Universitätsbibliothek
Katalog
Suche
Details
Zur Ergebnisliste
Ergebnis 12 von 17
Datensatz exportieren als...
BibTeX
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
Human mutation, 2006-08, Vol.27 (8), p.748-759
Stadler, Sonja C.
Polanetz, Roman
Maier, Esther M.
Heidenreich, Sylvia C.
Niederer, Birgit
Mayerhofer, Peter U.
Lagler, Florian
Koch, Hans-Georg
Santer, René
Fletcher, Janice M.
Ranieri, Enzo
Das, Anibh M.
Spiekerkötter, Ute
Schwab, Karl O.
Pötzsch, Simone
Marquardt, Iris
Hennermann, Julia B.
Knerr, Ina
Mercimek-Mahmutoglu, Saadet
Kohlschmidt, Nicolai
Liebl, Bernhard
Fingerhut, Ralph
Olgemöller, Bernhard
Muntau, Ania C.
Roscher, Adelbert A.
Röschinger, Wulf
2006
Details
Autor(en) / Beteiligte
Stadler, Sonja C.
Polanetz, Roman
Maier, Esther M.
Heidenreich, Sylvia C.
Niederer, Birgit
Mayerhofer, Peter U.
Lagler, Florian
Koch, Hans-Georg
Santer, René
Fletcher, Janice M.
Ranieri, Enzo
Das, Anibh M.
Spiekerkötter, Ute
Schwab, Karl O.
Pötzsch, Simone
Marquardt, Iris
Hennermann, Julia B.
Knerr, Ina
Mercimek-Mahmutoglu, Saadet
Kohlschmidt, Nicolai
Liebl, Bernhard
Fingerhut, Ralph
Olgemöller, Bernhard
Muntau, Ania C.
Roscher, Adelbert A.
Röschinger, Wulf
Titel
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
Ist Teil von
Human mutation, 2006-08, Vol.27 (8), p.748-759
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2006
Link zum Volltext
Quelle
Wiley Online Library All Journals
Beschreibungen/Notizen
New technology enables expansion of newborn screening (NBS) of inborn errors aimed to prevent adverse outcome. In conditions with a large share of asymptomatic phenotypes, the potential harm created by NBS must carefully be weighed against benefit. Policies vary throughout the United States, Australia, and Europe due to limited data on outcome and treatability of candidate screening conditions. We elaborated the rationale for decision making in 3‐methylcrotonyl‐coenzyme A (CoA) carboxylase deficiency (MCCD), which afflicts leucine catabolism, with reported outcomes ranging from asymptomatic to death. In Bavaria, we screened 677,852 neonates for 25 conditions, including MCCD, based on elevated concentrations of 3‐hydroxyisovalerylcarnitine (3‐HIVA‐C). Genotypes of MCCA (MCCC1) and MCCB (MCCC2) were assessed in identified newborns, their relatives, and in individuals (n=17) from other regions, and correlated to biochemical and clinical phenotypes. NBS revealed eight newborns and six relatives with MCCD, suggesting a higher frequency than previously assumed (1:&!sol;84,700). We found a strikingly heterogeneous spectrum of 22 novel and eight reported mutations. Allelic variants were neither related to biochemical nor anamnestic data of our probands showing all asymptomatic or benign phenotypes. Comparative analysis of case reports with NBS data implied that only few individuals (<10%) develop symptoms. In addition, none of the symptoms reported so far can clearly be attributed to MCCD. MCCD is a genetic condition with low clinical expressivity and penetrance. It largely represents as nondisease. So far, there are no genetic or biochemical markers that would identify the few individuals potentially at risk for harmful clinical expression. The low ratio of benefit to harm was pivotal to the decision to exclude MCCD from NBS in Germany. MCCD may be regarded as exemplary of the ongoing controversy arising from the inclusion of potentially asymptomatic conditions, which generates a psychological burden for afflicted families and a financial burden for health care systems. Hum Mutat 27(8), 748–759, 2006. © 2006 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1059-7794
eISSN: 1098-1004
DOI: 10.1002/humu.20349
Titel-ID: cdi_proquest_miscellaneous_68761690
Format
–
Schlagworte
3-methylcrotonyl-CoA carboxylase
,
acylcarnitines
,
Alleles
,
Carbon-Carbon Ligases - deficiency
,
Carbon-Carbon Ligases - genetics
,
Cohort Studies
,
Deficiency Diseases - diagnosis
,
Deficiency Diseases - genetics
,
Female
,
Genetic Heterogeneity
,
Genotype
,
Germany
,
Humans
,
inborn error of metabolism
,
Infant, Newborn
,
Male
,
MCCA
,
MCCB
,
MCCC1
,
MCCC2
,
Mutation
,
Neonatal Screening - legislation & jurisprudence
,
newborn screening
,
Penetrance
,
phenotype-genotype correlation
,
population heterogeneity
,
Risk Assessment
Weiterführende Literatur
Empfehlungen zum selben Thema automatisch vorgeschlagen von
bX