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| Disease found: | 6-pyruvoyl-tetrahydropterin synthase deficiency |
| Current as of: | October 8, 2024 |
| Disease Overview: | Causes hyperphenylalaninemia and is responsible for defective neurotransmission of monoamines due to malfunctioning tyrosine and tryptophan hydroxylases [more info] |
| Signs and Symptoms: | Hypotonia, opisthotony, abnormality of extrapyramidal motor function, ataxia, agitation [more info] |
| Diagnosis: | Analysis of pterins in urine, pterins and neurotransmitters in cerebrospinal fluid, and enzyme assay [more info] |
| Treatment: | Reducing high phenylalanine levels through a specialized diet, BH4 supplements and medications that help restore neurotransmitter levels [more info] |
| Clinical Management: | Dietary restriction and supplementation [more info] |
| Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None are available, but can sign up to be notified when one becomes available |