Register

Today

For Valuable Updates and Resources

Hypophosphatasia (HPP) is a life-threatening, progressive, systemic, inherited metabolic disorder.1-3

Hypophosphatasia is a lifelong disease caused by loss-of-function mutations in the ALPL gene, which encodes tissue-nonspecific alkaline phosphatase (TNSALP).1,4-6

ALPL mutations result in low alkaline phosphatase (ALP) activity, which causes the severe systemic manifestations of hypophosphatasia1,4,7

Learn More

 

In hypophosphatasia, low alkaline phosphatase ruins bones, bodies, and lives.1,7-12

Low alkaline phosphatase activity is the biological hallmark of hypophosphatasia.1,4

Low alkaline phosphatase—and the resulting elevated substrate levels—can lead to morbidities and premature mortality in patients with hypophosphatasia.13
 
 

Alkaline phosphatase is critical for metabolising 3 substrates5,14

 

Biochemical and clinical impact of low ALP activity5

Low alkaline phosphatase activity is the underlying cause of morbidities and mortality in hypophosphatasia.1,4,5

In hypophosphatasia, low alkaline phosphatase ruins bones, bodies, and lives.1,7-12

 

Low alkaline phosphatase activity disrupts bone mineralization and calcium/phosphate homeostasis throughout life.1,4

 
Lifelong bone health depends on healthy bone growth in childhood and adolescence and on bone mass turnover throughout adulthood.16-18
 
 

In addition to its role in bone mineralization, alkaline phosphatase dephosphorylates PLP (vitamin B6) into pyridoxal (PL), allowing it to cross the plasma membrane into the central nervous system (CNS). Within the CNS, PL is rephosphorylated into PLP. Intracellular PLP is involved in neurotransmitter synthesis (eg, gamma aminobutyric acid [GABA], dopamine, serotonin).1,19

In patients with hypophosphatasia, PLP deficiency in the CNS can cause fatal vitamin B6–responsive seizures.1,4,5

Clinical symptoms

Prominent clinical symptoms of hypophosphatasia

Avoid misdiagnoses

Hypophosphatasia is often misdiagnosed, because the signs and symptoms can overlap with those of other disorders.1,14

Low alkaline phosphatase—the biological hallmark of hypophosphatasia1,5

Growth and development profoundly affect the normal interval for alkaline phosphatase22,23
 
Assess your patient’s alkaline phosphatase

By clicking "SUBMIT" I agree to the Privacy Notice and Terms of Use.