Overview
This entry in the Orphanet database is marked as 'OBSOLETE,' meaning it has been retired or reorganized as a classification. It previously referred to 3-Phosphoglycerate dehydrogenase deficiency, also known as 3-PGDH deficiency or Neu-Laxova syndrome type 1 in some classifications, and is now more accurately captured under updated disease groupings. 3-PGDH deficiency is a rare inherited metabolic disorder caused by problems with an enzyme called 3-phosphoglycerate dehydrogenase, which plays a key role in making the amino acid serine in the body. Without enough serine, the brain and nervous system cannot develop or function properly. The condition typically causes serious neurological problems, including intellectual disability, seizures, and very small head size (microcephaly). Some affected individuals also have growth problems and eye abnormalities. Treatment focuses on supplementing serine and glycine through the diet, which can improve some symptoms, especially when started early. Because this Orphanet code is now obsolete, patients and families should look for updated information under the current classification for serine biosynthesis defects.
Also known as:
Key symptoms:
Abnormally small head size (microcephaly)Intellectual disability or developmental delaySeizures or epilepsyPoor growth and low birth weightSpasticity or stiff musclesEye movement problems or cataractsFeeding difficulties in infancyVery low levels of serine in the blood and spinal fluidDelayed or absent speech and language developmentIrritability or abnormal tone in newborns
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency.
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 OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.What dose of serine and glycine does my child need, and how often should it be given?,How will we know if the treatment is working, and what tests will be done to monitor progress?,What seizure medications are recommended, and what should I do if my child has a prolonged seizure?,Should other family members be tested to see if they are carriers of this condition?,Are there any clinical trials or research studies we could participate in?,What therapies (speech, physical, occupational) should we start, and how soon?,Is prenatal treatment an option if we plan to have more children?
Common questions about OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency
What is OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency?
This entry in the Orphanet database is marked as 'OBSOLETE,' meaning it has been retired or reorganized as a classification. It previously referred to 3-Phosphoglycerate dehydrogenase deficiency, also known as 3-PGDH deficiency or Neu-Laxova syndrome type 1 in some classifications, and is now more accurately captured under updated disease groupings. 3-PGDH deficiency is a rare inherited metabolic disorder caused by problems with an enzyme called 3-phosphoglycerate dehydrogenase, which plays a key role in making the amino acid serine in the body. Without enough serine, the brain and nervous sys
How is OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency inherited?
OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency typically begin?
Typical onset of OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency is neonatal. Age of onset can vary across affected individuals.