Dietary L-tyrosine supplementation in nemaline myopathy.
Nemaline myopathy is defined by the presence of nemaline bodies, or rods, on muscle biopsy. Facial and bulbar weakness in nemaline myopathy cause chewing and swallowing difficulties, recurrent aspiration, and poor control of oral secretions. This article discusses 5 patients (4 infants and 1 adolescent) with nemaline myopathy who received dietary supplementation with L-tyrosine (250 to 3000 mg/day). All 4 infants were reported to have an initial decrease in sialorrhoea and an increase in energy levels. The adolescent showed improved strength and exercise tolerance. No adverse effects of treatment were observed. Dietary tyrosine supplementation may improve bulbar function, activity levels, and exercise tolerance in nemaline myopathy.
Ryan
Monique M
MM
Neurosciences Department, The Royal Children's Hospital, Melbourne, Australia.
Sy
Catherine
C
Rudge
Sian
S
Ellaway
Carolyn
C
Ketteridge
David
D
Roddick
Laurence G
LG
Iannaccone
Susan T
ST
Kornberg
Andrew J
AJ
North
Kathryn N
KN
D000293:Adolescent; D001066:Appetite / Q000187:drug effects; D001706:Biopsy; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D019587:Dietary Supplements; D004305:Dose-Response Relationship, Drug; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D053580:Muscle Strength / Q000187:drug effects; D018482:Muscle, Skeletal / Q000187:drug effects / Q000473:pathology; D020125:Mutation, Missense; D017696:Myopathies, Nemaline / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D012798:Sialorrhea / Q000188:drug therapy / Q000473:pathology; D016896:Treatment Outcome; D014335:Tropomyosin / Q000235:genetics; D014443:Tyrosine / Q000008:administration & dosage*; D015430:Weight Gain / Q000187:drug effects
C498783:TPM3 protein, human; D014335:Tropomyosin; D014443:Tyrosine