Coenzyme Q10 deficiency in children: Frequent type 2C muscle fibers with normal morphology

ABSTRACT Introduction: Neurological disorders with low tissue coenzyme Q10 (CoQ10) levels are important to identify, as they may be treatable. Methods: We evaluated retrospectively clinical, laboratory, and muscle histochemistry and oxidative enzyme characteristics in 49 children with suspected mito...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Muscle & nerve 2013-11, Vol.48 (5), p.722-726
Hauptverfasser:	Sommerville, R. Brian, Zaidman, Craig M., Pestronk, Alan
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - enzymology Abnormalities, Multiple - pathology Ataxia - diagnosis Ataxia - enzymology Ataxia - pathology Child Child, Preschool coenzyme Q10 deficiency developmental delay Enzymes Female Humans Incidence Infant Male Mitochondrial Diseases - diagnosis Mitochondrial Diseases - enzymology Mitochondrial Diseases - pathology mitochondrial disorders Muscle Fibers, Fast-Twitch - cytology Muscle Fibers, Fast-Twitch - enzymology Muscle Fibers, Fast-Twitch - pathology muscle pathology Muscle Weakness - diagnosis Muscle Weakness - enzymology Muscle Weakness - pathology pediatric neurology Quadriceps Muscle - enzymology Quadriceps Muscle - pathology Retrospective Studies Sensitivity and Specificity type 2C fibers Ubiquinone - analogs & derivatives Ubiquinone - biosynthesis Ubiquinone - deficiency
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	ABSTRACT Introduction: Neurological disorders with low tissue coenzyme Q10 (CoQ10) levels are important to identify, as they may be treatable. Methods: We evaluated retrospectively clinical, laboratory, and muscle histochemistry and oxidative enzyme characteristics in 49 children with suspected mitochondrial disorders. We compared 18 with CoQ10 deficiency in muscle to 31 with normal CoQ10 values. Results: Muscle from CoQ10‐deficient patients averaged 5.5‐fold more frequent type 2C muscle fibers than controls (P
ISSN:	0148-639X 1097-4598
DOI:	10.1002/mus.23837