Hypophosphatasia(HPP)
Also known as: Hypophosphatasie · ALPL deficiency · Tissue-nonspecific alkaline phosphatase deficiency · Alkalische-Phosphatase-Mangel
Overview
What it is
Hypophosphatasia is a severe, inherited metabolic bone disease caused by a deficiency in the alkaline phosphatase enzyme, which is crucial for hardening skeletal tissues. Without enough of this enzyme, the dog's body cannot properly deposit minerals like calcium and phosphorus into its bones and teeth. This leads to abnormally soft, weak bones and skeletal structure.
How it presents
Symptoms typically appear shortly after birth or during early puppyhood. Owners will notice severe bone deformities, extreme bone softness, stunted growth, and potentially seizures.
Treatment
There is no cure for this condition, and it is unfortunately fatal during puppyhood. Veterinary care is limited to diagnostics and palliative support to keep the puppy comfortable, with costs typically ranging from 500 to 2500 EUR.
How it's tested
Hypophosphatasie (HPP) Gentest(HPP)
Primary testDNA testDer DNA-Test identifiziert die ursächliche Mutation im ALPL-Gen, welche für den Mangel an alkalischer Phosphatase und die gestörte Knochenmineralisierung verantwortlich ist.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Hypophosphatasia?
Hypophosphatasia is a severe, inherited metabolic bone disease caused by a deficiency in the alkaline phosphatase enzyme, which is crucial for hardening skeletal tissues. Without enough of this enzyme, the dog's body cannot properly deposit minerals like calcium and phosphorus into its bones and teeth. This leads to abnormally soft, weak bones and skeletal structure.
How is Hypophosphatasia tested?
Tests currently in our database: Hypophosphatasie (HPP) Gentest.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.