Hypophosphatasia, infantile

Baby Detect > Endocrinology > Hypophosphatasia, infantile

ALPL gene

Also known as: Phosphoethanolaminuria  

OMIM#241500 https://www.omim.org/entry/241500

1. The disease

A rare inborn error of metabolism characterized by defective mineralization of bones and teeth and reduced serum alkaline phosphatase.

2. The symptoms

Infantile type is characterized by rickets without elevated serum alkaline phosphatase. Children can present growth failure, pulmonary insufficiency, hypercalcemia, hypotonia, poor feeding, craniosynostosis, blue sclera, rachitic ribs, bowing of legs, bone pain, premature loss of deciduous teeth, dental caries and seizures. Lack of early signs or symptoms does not exclude the diagnosis.

3. Actions to take in case of early diagnosis:

  • Skeletal evaluation, cranial computed tomography and measurement of serum and urine calcium and phosphate, 25-hydroxi-vitamin D, serum pyridoxal 5′-phosphate (PLP) and urine inorganic pyrophosphate (PPi) can be done.
  • Infantile hypophosphatasia is a lifelong disease requiring lifetime management and regular follow-up with a Paediatric Endocrinology Center Management is provided by multidisciplinary team.
  • Enzyme replacement treatment with Asfotase alfa is the gold standard therapeutic.
  • Agents/circumstances to avoid: Bisphosphonates, excess of vitamin D and teriparatide.
  • Genetic counselling should be offered to at-risk family members.

4. For more information: