tetrahydrobiopterin deficiency
ICD-10: E70.1MeSH: C538382ORPHA: 1578
Overview
medical condition
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with tetrahydrobiopterin deficiency, sourced from HPO and Orphanet clinical annotations.
HyperphenylalaninemiaAbnormal circulating biopterin concentrationOculogyric crisisAbnormal circulating neopterin concentrationIrritabilityHypertoniaTremorHypomagnesemiaAxial hypotoniaNeurodevelopmental delayParkinsonismMaturity-onset diabetes of the youngCerebral palsy
Classification & Codes
ICD-10 Code
E70.1MeSH Code
C538382Orphanet Code
ORPHA:1578tetrahydrobiopterin deficiency
| ICD-10 | E70.1 |
| MeSH | C538382 |
| Orphanet | ORPHA:1578 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO