Severe perinatal hypophosphatasia case with a novel mutation

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.