Dietary l-tyrosine supplementation in nemaline myopathy
Abstract
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.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
One additional longitudinal study not included in the review because of its case study design without a control condition found that tyrosine supplementation, ranging from a few months to several years, improved strength and motor control in children and adolescents with nemaline myopathy.
“Nevertheless, one additional longitudinal study not included in our review due to its case study design without a control condition found that tyrosine supplementation, ranging from a few months to several years, was able to improve strength and motor control in children and adolescents with nemaline myopathy (Ryan et al., 2008).”
From Behavioral and cognitive effects of tyrosine intake in healthy human adults (2015) · cites this paper as Ryan et al., 2008
Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101 · see citing works
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928 · see citing works
A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
Laing, N. G., Wilton, S. D., Akkari, P. A., Dorosz, S. M., Boundy, K. L., Kneebone, C., Blumbergs, P. C., White, S. J., Watkins, H. C., Love, D. R., et al. (1995) · Nature Genetics · doi:10.1038/ng0195-75 · Cited by 356 · see citing works
Management of Progressive Muscular Dystrophy of Childhood
Vignos, P. J. (1963) · JAMA · doi:10.1001/jama.1963.03700150043007 · Cited by 331 · see citing works
Nemaline myopathy: A clinical study of 143 cases
Ryan, M. M., Schnell, C., Strickland, C. D., Shield, L. K., Morgan, G., Iannaccone, S. T., Laing, N. G., Beggs, A. H., & North, K. N. (2001) · Annals of Neurology · doi:10.1002/ana.1080 · Cited by 278 · see citing works
Self-citationAids to the examination of the peripheral nervous system
(1977) · Postgraduate Medical Journal · doi:10.1136/pgmj.53.621.419 · Cited by 192 · see citing works
Growdon, J. H., Melamed, E., Logue, M., Hefti, F., & Wurtman, R. J. (1982) · Life Sciences · doi:10.1016/0024-3205(82)90596-3 · Cited by 91 · see citing works
Lykkelund, C., Nielsen, J. B., LOU, H. C., et al. (1988) · European Journal of Pediatrics · doi:10.1007/bf00441411 · Cited by 76 · see citing works
Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy
Grattan‐Smith, P. J., Wevers, R. A., Steenbergen‐Spanjers, G. C. H., et al. (2002) · Movement Disorders · doi:10.1002/mds.10095 · Cited by 70 · see citing works
Effect of high-dose tyrosine supplementation on brain function in adults with phenylketonuria
Pietz, J., Landwehr, R., Kutscha, A., et al. (1995) · The Journal of Pediatrics · doi:10.1016/s0022-3476(95)70031-5 · Cited by 55 · see citing works
Agharanya, J. C., Alonso, R., & Wurtman, R. J. (1981) · American Journal of Clinical Nutrition · doi:10.1093/ajcn/34.1.82 · Cited by 44 · see citing works
Cognition and Tyrosine Supplementation Among School-Aged Children With Phenylketonuria
Mazzocco, M. M. M. (1992) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.1992.02160230019009 · Cited by 29 · see citing works
Brei, T. J. (2003) · Seminars in Pediatric Neurology · doi:10.1016/s1071-9091(03)00072-x · Cited by 28 · see citing works
Kalsner, L. R., Rohr, F., Strauss, K. A., et al. (2001) · The Journal of Pediatrics · doi:10.1067/mpd.2001.117576 · Cited by 26 · see citing works
Biochemical and clinical effects of tyrosine and tryptophan in the rett syndrome
Nielsen, J. B., Lou, H. C., & Andresen, J. (1990) · Brain and Development · doi:10.1016/s0387-7604(12)80197-5 · Cited by 20 · see citing works
The Sympathetic Nervous System
Supiano, M. A. (2000) · Humana Press eBooks · doi:10.1007/978-1-59259-715-4_15 · Cited by 14 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Behavioral and cognitive effects of tyrosine intake in healthy human adults
Hase, A., Jung, S. E., & aan het Rot, M. (2015) · Pharmacology Biochemistry and Behavior · doi:10.1016/j.pbb.2015.03.008 · Cited by 91 · see citing works
- Authors
- Ryan, M. M., Sy, C., Rudge, S., Ellaway, C., Ketteridge, D., Roddick, L. G., Iannaccone, S. T., Kornberg, A. J., & North, K. N.
- Affiliations
- Royal Children's Hospital (AU)
- Children's Hospital at Westmead (AU)
- Women's and Children's Hospital (AU)
- John Hunter Hospital (AU)
- Texas Scottish Rite Hospital for Children (US)
- The University of Sydney (AU)
- Venue
- Journal of Child Neurology
- Publisher
- SAGE Publications
- Published
- 2007-12-13
- Volume
- 23
- Issue
- 6
- Pages
- 609-613
- ISSN
- 0883-0738 (ISSN-L)
- 1708-8283
- OpenAlex
- W2133531034
- Cited by
- 68
- References
- 16
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 5 · 2023: 1 · 2022: 4 · 2021: 3 · 2020: 1 · 2019: 7 · 2018: 5 · 2017: 3 · 2016: 2 · 2015: 3 · 2014: 6 · 2013: 5 · 2012: 4
- FWCI
- 1.46
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Child Neurology (publishedVersion)
- PubMed (publishedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Health Sciences › Medicine › Genetics › Neurogenetic and Muscular Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- nemaline myopathy, tyrosine, dietary supplementation, drooling, bulbar weakness, facial weakness, dysphagia, aspiration, exercise tolerance, infants, neurometabolic therapy
- MeSH terms
- Adolescent, Appetite, Biopsy, Child, Preschool, Chromosomes, Human, Pair 1, Dose-Response Relationship, Drug, Female, Follow-Up Studies, Humans, Infant, Infant, Newborn, Male, Microscopy, Electron, Phenotype, Sialorrhea, Tropomyosin, Tyrosine, Weight Gain, Treatment Outcome, Myopathies, Nemaline, Muscle, Skeletal, Dietary Supplements, Mutation, Missense, Muscle Strength
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
