Severe perinatal hypophosphatasia case with a novel mutation

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Havva Yazici1, Ebru Canda2, Sema Kalkan Ucar2

  • 1Department of Pediatric Metabolism and Nutrition, Ege University Faculty of Medicine, Izmir, Turkey. havvaya@gmail.com.

Archivos Argentinos De Pediatria
|January 24, 2022
PubMed

Insights

Hypophosphatasia (HPP) is a rare genetic disorder affecting bone and teeth mineralization. Early diagnosis and treatment of this ALPL gene disorder in infants can improve survival and outcomes.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Hypophosphatasia (HPP) is a rare inherited metabolic disorder.
  • It is caused by mutations in the ALPL gene, leading to impaired bone and teeth mineralization.
  • Clinical manifestations vary based on age and severity.

Observation:

  • An infant presented with an enlarged anterior fontanelle, soft calvarium, fractures, respiratory distress, and seizures.
  • Biochemical tests revealed hypercalcemia, normal serum phosphate, and low serum alkaline phosphatase (ALP).
  • Radiography showed hypomineralization, fractures, and callus formations.

Findings:

  • Elevated plasma pyridoxal 5'-phosphate (PLP) and urine phosphoethanolamine (PEA) levels were noted.
  • Genetic analysis identified two compound heterozygous mutations in the ALPL gene, including a novel mutation.
  • These findings confirm the diagnosis of HPP.

Implications:

  • Early diagnosis of perinatal HPP is crucial.
  • Prompt treatment can significantly improve patient outcomes.
  • Timely intervention may positively impact survival rates in infants with HPP.

Keywords:
ALPL geneasfotase alfaenzyme replacement therapyhypophosphatasia

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