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Excessive infantile growth and early pubertal growth spurt: typical features in patients with aspartylglycosaminuria

P Arvio1, M Arvio, E Marttinen

  • 1Hospital for Children and Adolescents, Pediatric Neurology, Pediatric Endocrinology, and Pediatric Radiology, University of Helsinki, Helsinki, Finland.

The Journal of Pediatrics
|June 4, 1999
PubMed

Insights

Children with aspartylglycosaminuria, a rare lysosomal storage disorder, experience rapid early growth. However, a weak pubertal growth spurt leads to shorter adult heights in these patients.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Aspartylglycosaminuria (ASG) is a rare autosomal recessive lysosomal storage disorder.
  • It results from deficiency of the enzyme aspartylglucosaminidase (ASG), leading to the accumulation of undegraded glycoproteins.
  • Clinical manifestations include intellectual disability, dysmorphic features, and skeletal abnormalities.

Purpose of the Study:

  • To investigate the growth patterns in patients with aspartylglycosaminuria.
  • To identify early clinical signs and long-term growth outcomes.

Main Methods:

  • Retrospective analysis of growth data from 51 patients diagnosed with aspartylglycosaminuria.
  • Evaluation of height measurements from infancy through adulthood.

Main Results:

  • Rapid infantile growth was the initial clinical sign observed in patients.
  • Despite being tall for their age in childhood, patients exhibited a weak pubertal growth spurt.
  • This resulted in reduced adult heights compared to typical growth trajectories.

Conclusions:

  • Aspartylglycosaminuria presents with a distinct growth pattern characterized by early acceleration and attenuated pubertal growth.
  • Monitoring growth parameters is crucial for understanding the natural history of this lysosomal storage disorder.

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