Living with PSAT deficiency
A rare genetic condition that lowers serine and glycine, with seizures, a small head, and developmental delay in infancy.
Understanding PSAT deficiency
Blood and spinal fluid have low levels of serine and glycine. It starts in the newborn or infant period, with seizures that are hard to treat, a small head, stiff muscles, and delayed development. GARD notes that serine and glycine supplements started from birth have been reported to lead to a normal outcome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Small head size (microcephaly)
- Stiff muscles (hypertonia)
- Severe delays in development
- Feeding difficulties
- Slow growth before and after birth
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 and genetic specialists.
- 3Consider genetic testing
Changes in PSAT1 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
- Brain and nervous system specialists (neurologists); 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
This condition is caused by changes in the PSAT1 gene. GARD lists autosomal dominant inheritance.
Also known as: deficiency of phosphoserine aminotransferase; phosphoserine aminotransferase deficiency; phosphoserine aminotransferase deficiency, infantile/juvenile form; psat deficiency, infantile/juvenile form
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 PSAT deficiency.
Explore research for PSAT deficiency
Explore actively recruiting PSAT deficiency studies with HealthSpark.
Find actively recruiting studies for PSAT deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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