Niemann-Pick disease, type A(NPA)
Also known as: Niemann-Pick-Krankheit Typ A · Sphingomyelinlipidose · Acid Sphingomyelinase Deficiency · ASMD · Canine Niemann-Pick Disease Type A
Overview
What it is
Niemann-Pick disease type A is an inherited metabolic disorder where the lack of a vital enzyme prevents the body from breaking down certain fats. Because of this deficiency, these fats build up to toxic levels inside cells, primarily damaging the nervous system, liver, and spleen. This progressive accumulation leads to widespread cell damage and severe organ dysfunction.
How it presents
Affected puppies typically begin showing symptoms within the first few months of life, starting with mild coordination issues and muscle weakness. Owners will quickly notice worsening tremors, difficulty standing, and a rapid decline in overall mobility.
Treatment
There is no cure for this disease, and veterinary care is limited to supportive and palliative therapy to maintain comfort. Managing the symptoms and providing end-of-life care typically costs between 500 and 2000 EUR.
How it's tested
Niemann-Pick-Erkrankung Typ A (NPA) DNA-Test(NPA)
Primary testDNA testDer DNA-Test identifiziert Mutationen im SMPD1-Gen, die zu einem Mangel des Enzyms saure Sphingomyelinase führen, und ermöglicht den Nachweis von betroffenen Hunden sowie symptomfreien Anlageträgern.
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 Niemann-Pick disease, type A?
Niemann-Pick disease type A is an inherited metabolic disorder where the lack of a vital enzyme prevents the body from breaking down certain fats. Because of this deficiency, these fats build up to toxic levels inside cells, primarily damaging the nervous system, liver, and spleen. This progressive accumulation leads to widespread cell damage and severe organ dysfunction.
How is Niemann-Pick disease, type A tested?
Tests currently in our database: Niemann-Pick-Erkrankung Typ A (NPA) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.