Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in profound and irreversible mental disability. Neo...

Phenylalanine ammonia-lyase, which irreversibly deaminates phenylalanine and tyrosine, markedly inhibited the growth of human leukemic and murine L5178Y lymphoblasts in vitro but had a negligible effect on resting (nondividing) normal lymphocytes. These studies also demonstrated that phenylalanine ammonia-lyase inhibited DNA synthesis in leukemic cells at least as effectively as did asparaginas...

Lysine 2,3-aminomutase (LAM) catalyzes the interconversion of L-lysine to L-β-lysine using a [4Fe4S] cluster, S-adenosyl-L-methionine (SAM), and pyridoxal 5’-phosphate (PLP). LAM is a member of the radicalSAM superfamily of proteins which use iron-sulfur clusters and SAM to initiate H atom abstraction reactions. Included in this unusual chemistry is the reductive cleavage of SAM to generate the...

A full-length human phenylalanine hydroxylase cDNA has been recombined with a prokaryotic expression vector and introduced into Escherichia coli. Transformed bacteria express phenylalanine hydroxylase immunoreactive protein and pterin-dependent conversion of phenylalanine to tyrosine. Recombinant human phenylalanine hydroxylase produced in E. coli has been partially purified, and biochemical st...

MEYER, JAMES H., AND MORTON I. GROSSMAN. Comparison of Dand L-phenylalanine as pancreatic stimulants. Am. J. Physid. 222(a) : 1058-1063. 1972.-In dogs with pancreatic fistulas and arrangements for perfusing intact intestine, the following observations were made: 1) during continuous intravenous infusion of a submaximal dose of secretin, instillation of L-phenylalanine at pH 7 into the duodenum ...

Purified Synechococcus glutamate-1-semialdehyde aminotransferase (GSA-AT; EC 5.4.3.8) has absorption maxima characteristic of vitamin B6-containing enzymes and can be converted to the pyridoxamine 5'-phosphate or pyridoxal 5'-phosphate form by reaction with diaminovalerate or dioxovalerate, respectively, suggesting that these two analogues are intermediates in the conversion of glutamate 1-semi...

We describe a method based on the traditional arteriovenous balance technique in conjunction with muscle biopsies for the determination of leg muscle protein balance during the nonsteady state in blood amino acid concentrations. Six young, healthy individuals were studied in the postabsorptive state (pre-Phe) and after a bolus ingestion of approximately 0.5 g phenylalanine (post-Phe). Post-Phe ...

The rate of release of deuterons into the body water from 2,3,4,5,6-pentadeutero-L-phenylalanine has been shown to be a valid measure of the activity of the phenylalanine hydroxylase system in vivo. At a dose of 0.5 g/kg, the rate of release of deuterons is linear for 60 to 90 min. Male rats, which had previously been shown to have 22 to 25% more phenylalanine hydroxylase activity in liver extr...

Compartmentalization of amino acid was investigated to define conditions required for accurate measurements of rates of protein synthesis in rat lungs perfused in situ. Lungs were perfused with Krebs-Henseleit bicarbonate buffer containing 4.5% (w/v) bovine serum albumin, 5.6mm-glucose, normal plasma concentrations of 19 amino acids, and 8.6-690mum-[U-(14)C]phenylalanine. The perfusate was equi...

We applied a nondestructive tracer technique, previously developed for measuring skeletal muscle protein turnover, to the measurement of myocardial protein turnover in vivo. During a continuous infusion of L-[ring-2,6-3H]phenylalanine to anesthetized, overnight-fasted dogs, we measured the uptake of radiolabeled phenylalanine from plasma and the release of unlabeled phenylalanine from myocardia...