Phosphoserine aminotransferase deficiency

Title

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Other Names:

PSAT deficiency

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

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

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

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.

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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

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Last updated: 1/1/2021

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Find a Specialist Find a Specialist

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

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.

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