Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.
Am J Med Genet A
; 179(12): 2425-2432, 2019 12.
Article
in En
| MEDLINE
| ID: mdl-31639289
ABSTRACT
Mucopolysaccharidosis Type I (MPS I), caused by deficiency of α-L-iduronidase results in progressive, multisystemic disease with a broad phenotypic spectrum including patients with severe (Hurler syndrome) to attenuated (Hurler-Scheie and Scheie syndromes) disease. Disordered growth is common with either phenotype. The study objectives were to construct sex- and age-specific estimated length/height and head circumference growth curves for untreated individuals with severe and attenuated disease and compare them with clinical reference standards. Untreated individuals in the MPS I Registry with at least one observation for length/height and/or head circumference and assigned phenotype as of May 2017 were included. Median growth for 463 untreated individuals with severe disease deviated from reference growth curves by ~6 months of age and fell below the third percentile by 4 years of age. Median head circumference was above reference curves from 3 to 4 months through 3 years of age. Among 207 individuals with untreated attenuated disease, median height fell below the third percentile by 9 years of age with divergence from reference curves by 2 years of age. MPS I-specific growth curves will be useful in evaluation of long-term outcomes of therapeutics interventions and will provide a foundation for understanding the pathogenesis of skeletal disease in MPS I.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Phenotype
/
Mucopolysaccharidosis I
/
Growth Charts
Type of study:
Guideline
/
Screening_studies
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Year:
2019
Type:
Article