Non-lethal congenital hypotonia due to glycogen storage disease type IV

T. Andrew Burrow, Robert J. Hopkin, Kevin E. Bove, Lili Miles, Brenda L. Wong, Arabinda Choudhary, Deeksha Bali, Sing Chung Li, Yuan Tsong Chen

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Glycogen storage disease type IV (GSD-IV) is an autosomal recessive genetic disorder due to a deficiency in the activity of the glycogen branching enzyme (GBE). A deficiency in GBE activity results in the accumulation of glycogen with fewer branching points and long, unbranched outer chains. The disorder results in a variable phenotype, including musculoskeletal, cardiac, neurological, and hepatic involvement, alone or in continuum, which can be identified at any stage of life. The classic form of GSD-IV is a hepatic presentation, which presents in the first 18 months of life with failure to thrive, hepatomegaly, and cirrhosis that progresses to liver failure, resulting in death by age 5 years. A severe congenital musculoskeletal phenotype with death in the neonatal period has also been described. We report an unusual case of congenital musculoskeletal presentation of GSD-IV with stable congenital hypotonia, gross motor delay, and severe fibro-fatty replacement of the musculature, but no hepatic or cardiac involvement. Molecular analysis revealed two novel missense mutations with amino acid changes in the GBE gene (Q236H and R262C), which may account for the mild phenotype.

Original languageEnglish
Pages (from-to)878-882
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume140 A
Issue number8
DOIs
Publication statusPublished - Apr 15 2006

Fingerprint

Glycogen Storage Disease Type IV
Muscle Hypotonia
1,4-alpha-Glucan Branching Enzyme
Phenotype
Liver
Failure to Thrive
Inborn Genetic Diseases
Hepatomegaly
Liver Failure
Missense Mutation
Glycogen
Fibrosis
Amino Acids
Genes

Keywords

  • Andersen disease
  • Congenital myopathy
  • Glycogen branching enzyme (GBE)
  • Glycogen storage disease (GSD)

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Burrow, T. A., Hopkin, R. J., Bove, K. E., Miles, L., Wong, B. L., Choudhary, A., ... Chen, Y. T. (2006). Non-lethal congenital hypotonia due to glycogen storage disease type IV. American Journal of Medical Genetics, 140 A(8), 878-882. https://doi.org/10.1002/ajmg.a.31166

Non-lethal congenital hypotonia due to glycogen storage disease type IV. / Burrow, T. Andrew; Hopkin, Robert J.; Bove, Kevin E.; Miles, Lili; Wong, Brenda L.; Choudhary, Arabinda; Bali, Deeksha; Li, Sing Chung; Chen, Yuan Tsong.

In: American Journal of Medical Genetics, Vol. 140 A, No. 8, 15.04.2006, p. 878-882.

Research output: Contribution to journalArticle

Burrow, TA, Hopkin, RJ, Bove, KE, Miles, L, Wong, BL, Choudhary, A, Bali, D, Li, SC & Chen, YT 2006, 'Non-lethal congenital hypotonia due to glycogen storage disease type IV', American Journal of Medical Genetics, vol. 140 A, no. 8, pp. 878-882. https://doi.org/10.1002/ajmg.a.31166
Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A et al. Non-lethal congenital hypotonia due to glycogen storage disease type IV. American Journal of Medical Genetics. 2006 Apr 15;140 A(8):878-882. https://doi.org/10.1002/ajmg.a.31166
Burrow, T. Andrew ; Hopkin, Robert J. ; Bove, Kevin E. ; Miles, Lili ; Wong, Brenda L. ; Choudhary, Arabinda ; Bali, Deeksha ; Li, Sing Chung ; Chen, Yuan Tsong. / Non-lethal congenital hypotonia due to glycogen storage disease type IV. In: American Journal of Medical Genetics. 2006 ; Vol. 140 A, No. 8. pp. 878-882.
@article{1d9883a73d244bb19caf3078b0505c8a,
title = "Non-lethal congenital hypotonia due to glycogen storage disease type IV",
abstract = "Glycogen storage disease type IV (GSD-IV) is an autosomal recessive genetic disorder due to a deficiency in the activity of the glycogen branching enzyme (GBE). A deficiency in GBE activity results in the accumulation of glycogen with fewer branching points and long, unbranched outer chains. The disorder results in a variable phenotype, including musculoskeletal, cardiac, neurological, and hepatic involvement, alone or in continuum, which can be identified at any stage of life. The classic form of GSD-IV is a hepatic presentation, which presents in the first 18 months of life with failure to thrive, hepatomegaly, and cirrhosis that progresses to liver failure, resulting in death by age 5 years. A severe congenital musculoskeletal phenotype with death in the neonatal period has also been described. We report an unusual case of congenital musculoskeletal presentation of GSD-IV with stable congenital hypotonia, gross motor delay, and severe fibro-fatty replacement of the musculature, but no hepatic or cardiac involvement. Molecular analysis revealed two novel missense mutations with amino acid changes in the GBE gene (Q236H and R262C), which may account for the mild phenotype.",
keywords = "Andersen disease, Congenital myopathy, Glycogen branching enzyme (GBE), Glycogen storage disease (GSD)",
author = "Burrow, {T. Andrew} and Hopkin, {Robert J.} and Bove, {Kevin E.} and Lili Miles and Wong, {Brenda L.} and Arabinda Choudhary and Deeksha Bali and Li, {Sing Chung} and Chen, {Yuan Tsong}",
year = "2006",
month = "4",
day = "15",
doi = "10.1002/ajmg.a.31166",
language = "English",
volume = "140 A",
pages = "878--882",
journal = "American Journal of Medical Genetics, Part A",
issn = "0148-7299",
publisher = "Wiley-Liss Inc.",
number = "8",

}

TY - JOUR

T1 - Non-lethal congenital hypotonia due to glycogen storage disease type IV

AU - Burrow, T. Andrew

AU - Hopkin, Robert J.

AU - Bove, Kevin E.

AU - Miles, Lili

AU - Wong, Brenda L.

AU - Choudhary, Arabinda

AU - Bali, Deeksha

AU - Li, Sing Chung

AU - Chen, Yuan Tsong

PY - 2006/4/15

Y1 - 2006/4/15

N2 - Glycogen storage disease type IV (GSD-IV) is an autosomal recessive genetic disorder due to a deficiency in the activity of the glycogen branching enzyme (GBE). A deficiency in GBE activity results in the accumulation of glycogen with fewer branching points and long, unbranched outer chains. The disorder results in a variable phenotype, including musculoskeletal, cardiac, neurological, and hepatic involvement, alone or in continuum, which can be identified at any stage of life. The classic form of GSD-IV is a hepatic presentation, which presents in the first 18 months of life with failure to thrive, hepatomegaly, and cirrhosis that progresses to liver failure, resulting in death by age 5 years. A severe congenital musculoskeletal phenotype with death in the neonatal period has also been described. We report an unusual case of congenital musculoskeletal presentation of GSD-IV with stable congenital hypotonia, gross motor delay, and severe fibro-fatty replacement of the musculature, but no hepatic or cardiac involvement. Molecular analysis revealed two novel missense mutations with amino acid changes in the GBE gene (Q236H and R262C), which may account for the mild phenotype.

AB - Glycogen storage disease type IV (GSD-IV) is an autosomal recessive genetic disorder due to a deficiency in the activity of the glycogen branching enzyme (GBE). A deficiency in GBE activity results in the accumulation of glycogen with fewer branching points and long, unbranched outer chains. The disorder results in a variable phenotype, including musculoskeletal, cardiac, neurological, and hepatic involvement, alone or in continuum, which can be identified at any stage of life. The classic form of GSD-IV is a hepatic presentation, which presents in the first 18 months of life with failure to thrive, hepatomegaly, and cirrhosis that progresses to liver failure, resulting in death by age 5 years. A severe congenital musculoskeletal phenotype with death in the neonatal period has also been described. We report an unusual case of congenital musculoskeletal presentation of GSD-IV with stable congenital hypotonia, gross motor delay, and severe fibro-fatty replacement of the musculature, but no hepatic or cardiac involvement. Molecular analysis revealed two novel missense mutations with amino acid changes in the GBE gene (Q236H and R262C), which may account for the mild phenotype.

KW - Andersen disease

KW - Congenital myopathy

KW - Glycogen branching enzyme (GBE)

KW - Glycogen storage disease (GSD)

UR - http://www.scopus.com/inward/record.url?scp=33645574894&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33645574894&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.31166

DO - 10.1002/ajmg.a.31166

M3 - Article

VL - 140 A

SP - 878

EP - 882

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 0148-7299

IS - 8

ER -