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  3. Phosphoserine aminotransferase deficiency
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Phosphoserine aminotransferase deficiency


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Other Names:
PSAT deficiency
Categories:
Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 284417

Definition
Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2012

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 45 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Congenital microcephaly 0011451
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy
[ more ]
0001531
Hyperglycinemia
Elevated blood glycine levels
0002154
Hyposerinemia
Low blood serine levels
0012279
Inappropriate crying 0030215
Profound global developmental delay 0012736
30%-79% of people have these symptoms
Cerebral white matter hypoplasia 0012430
Hyperreflexia
Increased reflexes
0001347
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Infantile axial hypotonia 0009062
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
0001511
Thickened nuchal skin fold
Thickened skin folds of neck
Thickened skin over the neck
[ more ]
0000474
5%-29% of people have these symptoms
Ankle flexion contracture 0006466
Bilateral talipes equinovarus
Club foot on both sides
0001776
Cerebellar vermis hypoplasia 0001320
Craniosynostosis 0001363
Cyanotic episode 0200048
Delayed myelination 0012448
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
0005280
Dilation of lateral ventricles 0006956
EEG with focal sharp waves 0011196
EEG with polyspike wave complexes 0002392
Epileptic spasm 0011097
Gastrostomy tube feeding in infancy 0011471
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Ichthyosis 0008064
Knee flexion contracture 0006380
Lissencephaly
Fewer or absent grooves in brain
0001339
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Myoclonus 0001336
Nasogastric tube feeding 0040288
Paroxysmal involuntary eye movements 0007704
Short neck
Decreased length of neck
0000470
Simplified gyral pattern 0009879
Sloping forehead
Inclined forehead
Receding forehead
[ more ]
0000340
Spastic tetraparesis 0001285
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Feeding difficulties in infancy 0008872
Global developmental delay 0001263
Hypertonia 0001276
Hypoglycinemia
Low blood glycine levels
0012277
Infantile onset
Onset in first year of life
Onset in infancy
[ more ]
0003593
Postnatal microcephaly 0005484
Psychomotor retardation 0025356
Seizure 0001250
Showing of 45 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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