Catalog

6-pyruvoyl-tetrahydropterin synthase deficiency

No MMS code

Link to WHO Definition

6-pyruvoyl-tetrahydropterin synthase deficiency – http://id.who.int/icd/entity/1744398760

6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, as well as of defective neurotransmission of monoamines. When left untreated, the deficiency causes neurological signs at age 4 or 5 months including psychomotor retardation, tonus disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation and difficulty swallowing.