Primary care
Recommendation 1
Speech, PT, OT, augmentative and alternative communication devices
Deoxyhypusine synthase disorder
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Amino acid synthesis disorder leading to neurodevelopmental delays and motor impairments
Common symptoms
Symptoms begin in childhood and may include neurodevelopmental delayspoor or absent speechdelayed walkingunsteady gaitspasticityseizuresshort staturefailure to thriveconstipationabnormal curving of the 5th fingerhypotoniafacial differences that may include low-set earsdeep-set eyesprominent skinfolds below the lower eyelidprominent nasal bridgeand high arched palate
When to suspect
Recommendation 1
Molecular genetic testing for pathogenic variants in the DHPS gene
How to test
Recommendation 1
Molecular genetic testing for pathogenic variants in the DHPS gene
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Supportive
Further support
Recommendation 1
Genetic counseling. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical trials
Clinical Trials
Sources
No data available
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