Phenylketonuria 苯丙酮尿症 Xue Fan Gu. MD, PhD Xinhua Hospital Shanghai Jiao Tong University School of medicine
Phenylketonuria 苯丙酮尿症 Xue Fan Gu, MD, PhD Xinhua Hospital Shanghai Jiao Tong University School of Medicine
Inborn errors of metabolism Overview Disorders in which defects of single gene cause clinically significant blocks in metabolic pathways Many kinds of disorders Lower incidence Clinical manifestations vary widely: mental retardation, seizure, hypotonia, failure to thrive. vomiting/anorexia, special odor, hypoglycemia, yperammonemia, metabolic acidosis, elevated lactate/pyruvate etc
Inborn errors of metabolism Overview • Disorders in which defects of single gene cause clinically significant blocks in metabolic pathways • Many kinds of disorders • Lower incidence • Clinical manifestations vary widely: mental retardation, seizure, hypotonia, failure to thrive, vomiting/anorexia, special odor, hypoglycemia, hyperammonemia, metabolic acidosis, elevated lactate/pyruvate etc
Phenylketonuria O An autosomal recessive disease The incidence of pku in China is about 1/11800 o The incidence of pku in Shanghai is about 1/16000
⚫ An autosomal recessive disease ⚫ The incidence of PKU in China is about 1/11 800 ⚫ The incidence of PKU in Shanghai is about 1/16 000 Phenylketonuria
Phenylalanine metabolic pathway diet protein phenylalanine hydroxylase(PAh) phenylalanine tvrosine BH4 thyroxin dopa phenylpyruvic acid d I rename phenyllactate phenylacetate
Phenylalanine metabolic pathway diet protein phenylalanine hydroxylase(PAH) phenylalanine tyrosine BH4 phenylpyruvic acid phenyllactate phenylacetate thyroxin dopa adrenaline
Biosynthesis and regeneration of tetrahydrobiopterin Guanosine triphosphate(GTP) GTPch 35 Neopterin+-Dihydroneopterin triphosphate PTPS 6-Pyruvoyl-tetrahydropterin v SR Phe Tyrosine Tryptophan tetrahydropterin( BH4) DHPR PAH TH TPH PCD q-dihydrobiopterin(BH2) pterin Try L-DOPA 5-OH- Tryptophan 4a-carbinolamine
Biosynthesis and regeneration of tetrahydrobiopterin Guanosine triphosphate（GTP） GTPch p35 Neopterin Dihydroneopterin triphosphate (N) PTPS - + 6-Pyruvoyl-tetrahydropterin SR Phe Tyrosine Tryptophan tetrahydropterin(BH4 ) DHPR PAH TH TPH PCD q-dihydrobiopterin(BH2 ) pterin- Try L-DOPA 5-OHTryptophan 4a-carbinolamine biopterin Dopamine