Overview
Disorders of serine or glycine metabolism are a group of rare inherited conditions where the body cannot properly make or break down two important building blocks called amino acids: serine and glycine. These amino acids are not just used to build proteins — they also play a critical role in brain development, the production of myelin (the protective coating around nerves), and many other body functions. When the body cannot manage serine or glycine correctly, it can cause serious problems, especially in the brain and nervous system. The most well-known condition in this group is 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, also called serine deficiency syndrome or Neu-Laxova syndrome in its most severe form. Symptoms often appear in infancy or early childhood and can include seizures, intellectual disability, slow head growth (microcephaly), and movement problems. Some forms are milder, while others are life-threatening from birth. Treatment depends on the specific type of disorder. For serine biosynthesis defects, supplementing the diet with L-serine (and sometimes glycine) can significantly improve symptoms, especially if started early. There is currently no cure, but dietary therapy can make a meaningful difference in quality of life and development. Early diagnosis is very important because treatment started before or shortly after birth tends to give the best outcomes.
Key symptoms:
Seizures or epilepsyIntellectual disability or learning difficultiesSmall head size (microcephaly)Delayed development of motor skills like sitting and walkingMuscle stiffness or spasticityPoor muscle tone (floppiness) in infantsAbnormal eye movements or vision problemsFeeding difficulties in infancyBehavioral problemsSkin abnormalities (in severe forms like Neu-Laxova syndrome)Abnormal brain structure seen on MRIGrowth problems or failure to thrive
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Disorder of serine or glycine metabolism.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Disorder of serine or glycine metabolism.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific disorder of serine or glycine metabolism does my child have, and what gene is affected?,Should we start L-serine supplementation, and what dose is right for our child's age and weight?,Is prenatal treatment an option if we plan to have more children?,What therapies (speech, physical, occupational) would benefit my child most right now?,How often should we check amino acid levels in the blood and spinal fluid?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to go to the emergency room immediately?
Common questions about Disorder of serine or glycine metabolism
What is Disorder of serine or glycine metabolism?
Disorders of serine or glycine metabolism are a group of rare inherited conditions where the body cannot properly make or break down two important building blocks called amino acids: serine and glycine. These amino acids are not just used to build proteins — they also play a critical role in brain development, the production of myelin (the protective coating around nerves), and many other body functions. When the body cannot manage serine or glycine correctly, it can cause serious problems, especially in the brain and nervous system. The most well-known condition in this group is 3-phosphogly
How is Disorder of serine or glycine metabolism inherited?
Disorder of serine or glycine metabolism follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.