The consequences of low ALP activity and accumulation of ALP substrate can be life-threatening or lead to serious systemic complications. The systemic consequences of the disease result from changed bone metabolism that often affects the skeleton and/or teeth. Symptoms can also be neurological, respiratory, muscle-related, rheumatological and/or kidney-related.

Use the diagnostic algorithm, which clearly shows the most common symptoms of hypophosphatasia.

The table below comes from Rockman-Greenberg’s article in Pediatric Endocrinology Reviews 2013 and describes characteristic symptoms based on age at symptom debut.

PRENATALLY INFANT CHILD ADULT
Miscarriage Rickets Rickets Fractures / pseudofractures
Hypomine-
ralisation
Fractures Skeletal deformities Osteomalacia
Rib cage deformity Poor nutrient supply Slow-healing or repeated fractures Chondrocalcinosis
Deformity of long bones Impaired weight gain Low bone mineral density Osteoarthropathy
Osteochondral prominence Failure to thrive Dwarfism Pseudogout
Radiolucent areas in the metaphyses Hypotonia Muscle weakness Chronic muscle and/or bone pain
Poorly ossified epiphyses Vitamin B6-related seizures Missed motor milestones Tooth-loosening
Fractures Nephrocalcinosis Chronic muscle and/or bone pain Abnormal dentition
Seizures Hypercalcaemia /hypercalciuria Premature loss of deciduous teeth  
Apnoea Premature loss of deciduous teeth    
  Craniosynostosis    

Mornet E. Best Pract Res Clin Rheum 2008; 22: 113-127.
Rockman-Greenberg C. Ped Endocrinol Rev 2013; 10 (Suppl 2): 380-388.
Whyte MP. Ann N Y Acad Sci 2010; 1192: 190-200.

SYMPTOMS AND CONDITIONS
ASSOCIATED WITH HYPOPHOSPHATASIA

COMMON SYMPTOMS AND CONDITIONS THAT
CAN BE CAUSED BY HYPOPHOSPHATASIA READ MORE

THE ALP CALCULATOR
– DIAGNOSTIC TOOL

LOW ALP ACTIVITY KEY TO DIAGNOSIS READ MORE


IMPORTANT DIFFERENTIAL DIAGNOSES

IMPORTANT DIFFERENTIAL 
DIAGNOSES/CONDITIONS READ MORE
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