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Lysosomal storage disorders

Jayesh Sheth1, Pinaki Patel, Frenny Sheth

  • 1FRIGE (Foundation for Research in Genetics and Endocrinology), Genetic Center, 20/1, Bima Nagar, Satellite, Ahmedabad 380 015, India.

Indian Pediatrics
|April 6, 2004
PubMed

Insights

Lysosomal storage disorders (LSDs) present with varied symptoms, making specific enzyme tests crucial for diagnosis. This study highlights GM2-gangliosidosis and mucopolysaccharidosis as common LSDs requiring further investigation in children with developmental issues.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases with diverse clinical presentations.
  • Accurate and timely diagnosis of LSDs is essential for effective management and treatment.

Purpose of the Study:

  • To evaluate the clinical variability of Lysosomal storage disorders (LSDs).
  • To determine the effectiveness of specific enzyme investigations in reaching a differential diagnosis for LSDs.

Main Methods:

  • Screening of 150 children (15 days to 13 years) for common metabolic disorders.
  • Selection of 30 children based on screening, clinical signs, and symptoms for leukocyte enzyme study.
  • Confirmation of LSDs through specific enzyme assays.

Main Results:

  • Twenty-one out of 30 children were confirmed to have LSDs.
  • GM2-gangliosidosis (47.61%) and mucopolysaccharidosis (33.33%) were the most prevalent LSDs.
  • Variable phenotypic expressions were observed across all confirmed LSD cases, including Metachromatic leukodystrophy (MLD).

Conclusions:

  • Children presenting with developmental delay, seizures, dysmorphic features, or organomegaly warrant further investigation for LSDs.
  • The clinical variability of LSDs necessitates specific leukocyte enzyme studies for accurate diagnosis.
  • Early identification of LSDs through enzyme analysis is critical for pediatric patient care.

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