Screening for defects of branched-chain amino acid metabolism
Screening for defects of branched-chain amino acid metabolism is a sequential process involving clinical evaluation of the patient, plasma carnitine determination, urinary organic acid analysis, and enzyme studies in cultured or isolated peripheral cells. This report will summarize clinical and meta...
Gespeichert in:
| Hauptverfasser: | , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
January 1994
|
| In: |
European journal of pediatrics
Year: 1994, Jahrgang: 153, Pages: S62-S67 |
| ISSN: | 1432-1076 |
| DOI: | 10.1007/BF02138780 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/BF02138780
|
| Verfasserangaben: | K. Michael Gibson, Carol F. Lee, Georg F. Hoffmann |
MARC
| LEADER | 00000naa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1939612195 | ||
| 003 | DE-627 | ||
| 005 | 20251028143600.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 251028s1994 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1007/BF02138780 |2 doi | |
| 035 | |a (DE-627)1939612195 | ||
| 035 | |a (DE-599)KXP1939612195 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Gibson, K. Michael |e VerfasserIn |0 (DE-588)1380110416 |0 (DE-627)193961242X |4 aut | |
| 245 | 1 | 0 | |a Screening for defects of branched-chain amino acid metabolism |c K. Michael Gibson, Carol F. Lee, Georg F. Hoffmann |
| 264 | 1 | |c January 1994 | |
| 300 | |a 6 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 28.10.2025 | ||
| 520 | |a Screening for defects of branched-chain amino acid metabolism is a sequential process involving clinical evaluation of the patient, plasma carnitine determination, urinary organic acid analysis, and enzyme studies in cultured or isolated peripheral cells. This report will summarize clinical and metabolite features and enzymological methods available for the diagnosis of the more common defects of branchedchain amino acid metabolism, including isovaleryl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 3-methylglutaconic aciduria due to 3-methylglutaconyl-CoA hydratase deficiency and other less well characterized defects, 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, and 2-methylacetoacetyl-CoA thiolase deficiency. Newer enzymatic methodologies utilizing NaH14CO3 fixation coupled assays are described which allow for the estimation of six enzyme activities in the catabolic pathways ofL-leucine andL-isoleucine catabolism. These coupled assays facilitate the rapid identification of five of the six enzyme abnormalities described above. Their ease of use should allow them to be implemented in any laboratory which screens for inborn errors of metabolism | ||
| 650 | 4 | |a Branched-chain amino acids | |
| 650 | 4 | |a Catabolic pathways | |
| 650 | 4 | |a Coupled enzyme assays | |
| 650 | 4 | |a Inborn errors of metabolism | |
| 650 | 4 | |a NaH14CO3 fixation assays | |
| 700 | 1 | |a Lee, Carol F. |e VerfasserIn |0 (DE-588)1380110548 |0 (DE-627)1939612616 |4 aut | |
| 700 | 1 | |a Hoffmann, Georg F. |d 1957- |e VerfasserIn |0 (DE-588)115652868 |0 (DE-627)077386116 |0 (DE-576)261230042 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t European journal of pediatrics |d Berlin : Springer Science & Business Media B.V., 1975 |g 153(1994), suppl. 1, Seite S62-S67 |h Online-Ressource |w (DE-627)684135361 |w (DE-600)2647723-3 |w (DE-576)367395959 |x 1432-1076 |7 nnas |a Screening for defects of branched-chain amino acid metabolism |
| 773 | 1 | 8 | |g volume:153 |g year:1994 |g supplement:suppl. 1 |g pages:S62-S67 |g extent:6 |a Screening for defects of branched-chain amino acid metabolism |
| 856 | 4 | 0 | |u https://doi.org/10.1007/BF02138780 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20251028 | ||
| 993 | |a Article | ||
| 994 | |a 1994 | ||
| 998 | |g 115652868 |a Hoffmann, Georg F. |m 115652868:Hoffmann, Georg F. |p 3 |y j | ||
| 999 | |a KXP-PPN1939612195 |e 4792297478 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"relHost":[{"part":{"volume":"153","pages":"S62-S67","text":"153(1994), suppl. 1, Seite S62-S67","extent":"6","year":"1994"},"note":["Fortsetzung der Druck-Ausgabe","Gesehen am 29.05.12","Ungezählte Beil.: Supplement"],"titleAlt":[{"title":"Zeitschrift für Kinderheilkunde"}],"pubHistory":["121.1975/76 -"],"id":{"eki":["684135361"],"zdb":["2647723-3"],"issn":["1432-1076"]},"origin":[{"dateIssuedDisp":"1975-","dateIssuedKey":"1975","publisher":"Springer Science & Business Media B.V.","publisherPlace":"Berlin ; Dordrecht"}],"recId":"684135361","disp":"Screening for defects of branched-chain amino acid metabolismEuropean journal of pediatrics","title":[{"title":"European journal of pediatrics","subtitle":"official organ of the Belgian Pediatric Association","title_sort":"European journal of pediatrics"}],"corporate":[{"role":"isb","display":"Belgian Association of Pediatric Anesthesiologists"}],"type":{"media":"Online-Ressource","bibl":"periodical"},"language":["ger","eng"],"physDesc":[{"extent":"Online-Ressource"}]}],"note":["Gesehen am 28.10.2025"],"recId":"1939612195","name":{"displayForm":["K. Michael Gibson, Carol F. Lee, Georg F. Hoffmann"]},"origin":[{"dateIssuedDisp":"January 1994","dateIssuedKey":"1994"}],"id":{"eki":["1939612195"],"doi":["10.1007/BF02138780"]},"type":{"media":"Online-Ressource","bibl":"article-journal"},"physDesc":[{"extent":"6 S."}],"language":["eng"],"title":[{"title_sort":"Screening for defects of branched-chain amino acid metabolism","title":"Screening for defects of branched-chain amino acid metabolism"}],"person":[{"display":"Gibson, K. Michael","family":"Gibson","given":"K. Michael","role":"aut"},{"role":"aut","given":"Carol F.","family":"Lee","display":"Lee, Carol F."},{"display":"Hoffmann, Georg F.","family":"Hoffmann","given":"Georg F.","role":"aut"}]} | ||
| SRT | |a GIBSONKMICSCREENINGF1994 | ||