Dietary L-tyrosine supplementation in Nemaline myopathy

被引：43

作者：

Ryan, Monique M. ^{[2
,3
]}

Sy, Catherine ^{[4
]}

Rudge, Sian

Ellaway, Carolyn ^{[4
]}

Ketteridge, David ^{[5
]}

Roddick, Laurence G. ^{[6
]}

Iannaccone, Susan T. ^{[7
]}

Kornberg, Andrew J. ^{[2
,3
]}

North, Kathryn N. ^{[1
,8
]}

机构：

[1] Childrens Hosp Westmead, Clin Sch Level 3, Inst Neuromuscular Res, Sydney, NSW 2145, Australia

[2] Royal Childrens Hosp, Dept Neurosci, Melbourne, Vic, Australia

[3] Murdoch Childrens Res Inst, Melbourne, Vic, Australia

[4] Childrens Hosp Westmead, Western Sydney Genet Program, Sydney, NSW, Australia

[5] Womens & Childrens Hosp, Dept Paediat, Adelaide, SA, Australia

[6] John Hunter Childrens Hosp, Dept Paediat, Newcastle, NSW, Australia

[7] Texas Scottish Rite Hosp Children, Dept Neuromuscular Dis & Neurorehabil, Dallas, TX 75219 USA

[8] Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW, Australia

来源：

JOURNAL OF CHILD NEUROLOGY | 2008年 / 23卷 / 06期

关键词：

nemaline; myopathy; tyrosine; sialorrhoea;

D O I：

10.1177/0883073807309794

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 I 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.

引用

页码：609 / 613

页数：5

共 19 条

[1] CHANGES IN CATECHOLAMINE EXCRETION AFTER SHORT-TERM TYROSINE INGESTION IN NORMALLY FED HUMAN-SUBJECTS [J].

AGHARANYA, JC ;

ALONSO, R ;

WURTMAN, RJ .

AMERICAN JOURNAL OF CLINICAL NUTRITION, 1981, 34 (01) :82-87

[2]

Brei Timothy J, 2003, Semin Pediatr Neurol, V10, P265, DOI 10.1016/S1071-9091(03)00072-X

[3]

Dodd J., 1991, PRINCIPLES NEURAL SC, V3rd, P761

[4]

ELLAWAY C, 2000, RETT SYNDROME DIAGNO

[5] Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy [J].

Grattan-Smith, PJ ;

Wevers, RA ;

Steenbergen-Spanjers, GC ;

Fung, VSC ;

Earl, J ;

Wilcken, B .

MOVEMENT DISORDERS, 2002, 17 (02) :354-359

[6] EFFECTS OF ORAL L-TYROSINE ADMINISTRATION ON CSF TYROSINE AND HOMOVANILLIC-ACID LEVELS IN PATIENTS WITH PARKINSONS-DISEASE [J].

GROWDON, JH ;

MELAMED, E ;

LOGUE, M ;

HEFTI, F ;

WURTMAN, RJ .

LIFE SCIENCES, 1982, 30 (10) :827-832

[7]

*HER MAJ STAT OFF, 1976, 45 MRC HER MAJ STAT

[8]

KALITA D, 1989, J ORTHOMOL MED, V2, P70

[9] Tyrosine supplementation in phenylketonuria: Diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids [J].

Kalser, LR ;

Robr, FJ ;

Strauss, KA ;

Korson, MS ;

Levy, HL .

JOURNAL OF PEDIATRICS, 2001, 139 (03) :421-427

[10] A MUTATION IN THE ALPHA-TROPOMYOSIN GENE TPM3 ASSOCIATED WITH AUTOSOMAL-DOMINANT NEMALINE MYOPATHY [J].

LAING, NG ;

WILTON, SD ;

AKKARI, PA ;

DOROSZ, S ;

BOUNDY, K ;

KNEEBONE, C ;

BLUMBERGS, P ;

WHITE, S ;

WATKINS, H ;

LOVE, DR ;

HAAN, E .

NATURE GENETICS, 1995, 9 (01) :75-79

← 1 2 →