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Enzyme Replacement Therapy in Hypophosphatasia

S. Ahmet Uçaktürk1, Selin Elmaogullari1, Sevim Ünal2

  • 1Department of Pediatric Endocrinology, University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|September 4, 2018
PubMed

Insights

Hypophosphatasia (HPP) is a severe skeletal disorder. Enzyme replacement therapy with Asfotase alfa (AA) showed promising results in a newborn with lethal HPP, with no observed side effects.

Area of Science:

  • Biochemistry
  • Pediatric Endocrinology
  • Genetics

Background:

  • Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by defective bone mineralization.
  • It leads to significant morbidity and mortality, particularly in pediatric patients, and also affects adults.
  • Current treatment options for HPP are limited, highlighting the need for effective therapies.

Observation:

  • A male newborn presented with severe symptoms including an extreme fontanel gap and respiratory distress.
  • The infant was diagnosed with perinatal lethal Hypophosphatasia.
  • Treatment with Asfotase alfa (AA), a bone-targeting enzyme replacement therapy, was initiated shortly after birth.

Findings:

  • Serum alkaline phosphatase (ALP) levels, a key biomarker for HPP, significantly increased during AA treatment, reaching up to 12,700 U/L.
  • The treatment was well-tolerated, with no adverse side effects observed in the patient.
  • The therapeutic intervention demonstrated a positive biochemical response in managing the severe HPP presentation.

Implications:

  • Asfotase alfa (AA) represents a potentially valuable therapeutic option for severe and lethal forms of Hypophosphatasia.
  • This case suggests AA's efficacy in reversing skeletal mineralization defects in newborns with HPP.
  • Further research and clinical trials are warranted to establish the long-term safety and efficacy of AA in HPP patients across different age groups.

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