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Mucolipidosis II: first report from Saudi Arabia
Majid Alfadhel1, Wafaa AlShehhi, Hesham Alshaalan
1Dr. Majid Alfadhel . Pediatrics, King Abdulaziz Medical City, Sheikh Jabir Al Ahmed al Sabah Street, Al Rimayah, PO Box 22490, 1510 Riyadh 11426, Saudi Arabia . dralfadhel@yahoo.com.
Annals of Saudi Medicine
|September 25, 2013
Summary
Mucolipidosis II (MLII) is a severe genetic disorder. Early diagnosis in infants with neonatal hyperparathyroidism and specific features is crucial for management.
Area of Science:
- Biochemistry and Genetics
- Pediatric Rare Diseases
- Lysosomal Storage Disorders
Background:
- Mucolipidosis II (MLII) is a severe lysosomal storage disorder.
- It results from a deficiency in N-acetylglucosamine-1 phosphotransferase.
- MLII presents with global developmental delay, distinctive facial features, and skeletal abnormalities.
Observation:
- A case series of three unrelated Saudi children with MLII is presented.
- Patients exhibited neonatal hyperparathyroidism, microcephaly, craniosynostosis, coarse facial features, cardiac issues, and skeletal deformities.
- The study was conducted at King Abdulaziz Medical City, Riyadh, Saudi Arabia (2008-2012).
Findings:
- MLII diagnosis was confirmed via fibroblast enzyme assays showing reduced activity and pathogenic homozygous GNPTAB gene mutations.
- One child expired at two months due to pulmonary hypertension; two survived to 12 and 18 months.
- Surviving infants displayed severe global developmental delay by two months of age.
Implications:
- Neonatal hyperparathyroidism, craniosynostosis, skeletal deformities, and coarse facial features warrant investigation for MLII.
- Prompt diagnosis enables appropriate management and genetic counseling.
- This case series highlights the clinical presentation of MLII in a Saudi population.
