modern wellness · Condition
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
disease · Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
🏥 Names
Disease Name
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Alias Names / Synonyms
HyperphenylalaninemiaBh4-DeficientA6-Pyruvoyl-Tetrahydropterin Synthase DeficiencyBh4-Deficient Hyperphenylalaninemia A
Topic Type
syndrome
🧬 Ontology Classifications
DisGeNET Type
disease
UMLS Type
Disease or Syndrome
MeSH Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
DO Class
genetic disease; disease of metabolism
🔗 External References