Living with Niemann-Pick disease, type A
An inherited fat-processing condition that starts in infancy, with an enlarged liver and spleen, slow growth and nervous system changes.
Understanding Niemann-Pick disease, type A
Also called infantile neurovisceral acid sphingomyelinase deficiency, it causes harmful amounts of fats to build up in the spleen, liver, lungs, bone marrow, and brain. It appears in infancy with an enlarged liver and spleen, slow weight gain and growth (failure to thrive), and a progressive decline in nervous system function.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged liver (hepatomegaly)
- Slow weight gain and growth (failure to thrive)
- Feeding difficulties in infancy
- Delayed development and loss of skills already gained
- Irritability
- Cherry red spot in the back of the eye (macula)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in SMPD1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Niemann-Pick Disease Foundation, Inc. and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Niemann-Pick Disease Foundation, Inc., Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Niemann-Pick Disease Foundation, Inc. and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SMPD1 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: classical niemann-pick disease; infantile neurovisceral acid sphingomyelinase deficiency; infantile neurovisceral asmd; niemann-pick disease neuropathic type; niemann-pick disease type a; niemann-pick disease, acute neuropathic form
Patient organizations
- National Niemann-Pick Disease Foundation, Inc.Niemann-Pick disease, type A · United States
- National Tay-Sachs and Allied Diseases AssociationNiemann-Pick disease, type A · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Niemann-Pick disease, type A.
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