Living with Acid phosphatase deficiency
A rare inherited condition affecting how cells break down certain substances, with vomiting, low muscle tone, and tiredness in infants.
Understanding Acid phosphatase deficiency
It is marked by intermittent vomiting, low muscle tone (hypotonia), extreme tiredness (lethargy), and arching of the back and neck (opisthotonos). It begins in the newborn and infant period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Vomiting that comes and goes
- Low muscle tone (hypotonia)
- Extreme tiredness (lethargy)
- Arching of the back and neck (opisthotonos)
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 genetic specialists.
- 3Consider genetic testing
Changes in ACP2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 ACP2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: lysosomal acid phosphatase deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Acid phosphatase deficiency.
Explore research for Acid phosphatase deficiency
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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