Protein turnover. Catabolism of amino acids III István Léránt

CATABOLISM OF AMINO ACIDS‚C’ Phe Tyr Trp Role of molecular oxygen

CATABOLISM OF AMINO ACIDS‚C’ Phe Tyr Trp Role of molecular oxygen

CATABOLISM OF AMINO ACIDS‚C’ Phe Typ Trp Phenylketonuria

CATABOLISM OF AMINO ACIDS‚C’ Phenylketonury – Hyperphenylalaninaemia I: phenylalanin-hydroxylase – Dihydrobiopterin-reductase (hyperphenylalanaemia II, III) – Dihydrobiopterin biosynthesis (hiperphenylalaninaemia IV, V) Phe Tyr Trp

CATABOLISM OF AMINO ACIDS‚C’ Phe Tyr Trp

CATABOLISM OF AMINO ACIDS‚C’ Phe Tyr Trp Transzamináz aktivitás p-hidroxifenil piruvát hidroxiláz Homogentizinsav oxidáz Tyrosine-transaminase: Type II tyrosinemia Neonatal tyrosinemia: p-OH-phenyl-pyruvate hydroxylase Alkaptonuria: homogentisate oxydase Fumarylacetoacetate hydroxylase: Type I tyrosinemia

CATABOLISM OF AMINO ACIDS‚C’ Tyrosinaemia Type I: Genetical defect of: – fumaryloacetoacetate and maleylo acetoacetate hydrolase – [Tyr] plasma 6-12 mg/dl, [Met]  Acut tyrosinosis: „cabbage odor”, diarrhea, vomit, death (at age 6-8 months) Chronic tyrosinaemy: milder symptoms, death (at age 10 years) Phe Tyr Trp

CATABOLISM OF AMINO ACIDS‚C’ Tyrosinaemia type II: Genetical defect of: tyrosine transaminase [Tyr] plasma 4-5 mg/dl Eye and skin lesions Mental retardation Neonatal tyrosinaemia: Relative lack of p-hydroxy- phenylpyruvate- hydroxylase Protein poor diet Phe Tyr Trp

CATABOLISM OF AMINO ACIDS‚C’ Alcaptonuria Homogentisinic oxydase 1859 – Theory of Garrod elmélet Dark urine may occur Oochronosis Phe Tyr Trp

CATABOLISM OF AMINO ACIDS‚C’ Phe Tyr Trp Catabolism of tryptophane Trp  Nicotinamide Tryptophane oxygenase (inducible) Kinurenine formilase Kinurenine hydroxylase Kinureninase (PLP) KINURENIN  Niacin (Vitamin B 3 ) NIACIN (B 3 )

CATABOLISM OF AMINO ACIDS‚C’ Vitamin B 6 deficiency: – Kinurenine is converted into xanturenate – urine – Synthesis of NAD + & NADP +  – Synthesis of pyrimidine  Niacin deficiency: – pellagra Hartnup-disease: – A family of London (19th century) – Trp (neutral) amino acid Disorder of intestinal and renal transport Phe Tyr Trp