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Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.

Publication ,  Journal Article
Huggins, E; Holland, M; Case, LE; Blount, J; Landstrom, AP; Jones, HN; Kishnani, PS
Published in: Mol Genet Metab
March 2022

PURPOSE: Thoroughly phenotype children with late-onset Pompe disease (LOPD) diagnosed via newborn screening (NBS) to provide guidance for long-term follow up. METHODS: Twenty infants ages 6-21 months with LOPD diagnosed by NBS underwent systematic clinical evaluation at Duke University including cardiac imaging, biomarker testing, physical therapy evaluation, and speech-language pathology evaluation. RESULTS: Of the 20 infants, four were homozygous for the "late-onset" IVS1 splice site variant c.-32-13 T > G, fourteen were compound heterozygous, and two did not have any copies of this variant. None of the patients had evidence of cardiomyopathy or cardiac rhythm disturbances. Biomarker testing showed an increase in CK, AST, and ALT in 8 patients (40%) and increase in Glc4 in two patients (10%). All patients demonstrated postural and kinematic concerns. Three patients (17%) scored below the 10%ile on the Alberta Infant Motor Scale (AIMS) and 15 patients (83%) scored above the 10%ile. Speech-language pathology assessments were normal in all patients and mild feeding/swallowing abnormalities were noted in nine patients (45%). CONCLUSION: Our data show high variability among children with LOPD diagnosed via NBS. Careful physical therapy evaluation is necessary to monitor for subtle musculoskeletal signs that may reflect early muscle involvement. Patients should be monitored closely for symptom progression.

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Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

March 2022

Volume

135

Issue

3

Start / End Page

179 / 185

Location

United States

Related Subject Headings

  • Phenotype
  • Neonatal Screening
  • Mutation
  • Infant, Newborn
  • Humans
  • Homozygote
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • 3202 Clinical sciences
  • 3105 Genetics
 

Citation

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Huggins, E., Holland, M., Case, L. E., Blount, J., Landstrom, A. P., Jones, H. N., & Kishnani, P. S. (2022). Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening. Mol Genet Metab, 135(3), 179–185. https://doi.org/10.1016/j.ymgme.2022.01.003
Huggins, Erin, Maggie Holland, Laura E. Case, Janet Blount, Andrew P. Landstrom, Harrison N. Jones, and Priya S. Kishnani. “Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.Mol Genet Metab 135, no. 3 (March 2022): 179–85. https://doi.org/10.1016/j.ymgme.2022.01.003.
Huggins E, Holland M, Case LE, Blount J, Landstrom AP, Jones HN, et al. Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening. Mol Genet Metab. 2022 Mar;135(3):179–85.
Huggins, Erin, et al. “Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.Mol Genet Metab, vol. 135, no. 3, Mar. 2022, pp. 179–85. Pubmed, doi:10.1016/j.ymgme.2022.01.003.
Huggins E, Holland M, Case LE, Blount J, Landstrom AP, Jones HN, Kishnani PS. Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening. Mol Genet Metab. 2022 Mar;135(3):179–185.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

March 2022

Volume

135

Issue

3

Start / End Page

179 / 185

Location

United States

Related Subject Headings

  • Phenotype
  • Neonatal Screening
  • Mutation
  • Infant, Newborn
  • Humans
  • Homozygote
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • 3202 Clinical sciences
  • 3105 Genetics