Titlebook: Inherited Disorders of Vitamins and Cofactors; Proceedings of the 2 G. M. Addison,K. Bartlett,R. J. Pollitt Conference proceedings 1985 SSI

erythema

Normal Vitamin Requirements in Neonates and Infantsals, from the occurrence of overt deficiency in infants fed damaged milk formulae, and by extrapolation from experimental deficiency studies on adult humans and on animals. Our knowledge is far from complete, however, and dietary recommendations have been formulated for only about half the known vit

QUAIL

Intestinal Transport of Vitaminstamins are absorbed in the intestine only slowly by simple diffusion; specific mechanisms of transport have evolved that normally insure complete availability of each substrate to the organism. Secondary genetic errors that result in the impairment of an intestinal transport mechanism may become deb

Infinitesimal

Biosynthesis of Tetrahydrobiopterin in Man enzyme (PEE) was purified ~750-fold. The conversion of NH.P. to BH. was catalyzed by this enzyme in the presence of partially purified sepiapterin reductase, Mg. and NADPH. The PEE is heat stable when heated at 80 °C for 5 min. It has a molecular weight of 63 000 daltons. One possible intermediate

Carcinogenesis

Engaging

Clinical Role of Pteridine Therapy in Tetrahydrobiopterin Deficiencyerin (6-MPH.) lowers plasma Phenylalanine concentrations to the therapeutic range. The effective dose of BH. varies from 1 to 2 mg kg. daily in patients with defective biopterin synthesis, to 5 mg kg. or more in patients with dihydropteridine reductase (DHPR) deficiency. The cost of 2 mg kg. day. of

Nostalgia

faction

Biotinidase Deficiency: A Novel Vitamin Recycling Defectrest in the inherited disorders of biotin-dependent carboxylases. The clinical and biochemical features of biotinidase deficiency are discussed. We also speculate about two exciting areas currently being investigated: the localization of action of biotinidase, and the possible role of the enzyme as

CUB

Biotinidase Deficiency: Factors Responsible for the Increased Biotin Requirementiotin. We have observed that severe biotin depletion with clinical and biochemial consequences occurs within 12 days after birth in a newborn patient and within 15–20 days after withdrawal of biotin supplementation in four other patients. Our studies have shown that:

凹槽

怕失去钱

Thiamine-responsive Inborn Errors of Metabolismthe syndrome of megaloblastic anaemia with sensorineural deafness and diabetes mellitus. The amounts of thiamine which were used for long-term treatment varied from 20 to 2400mg day.. Additional treatment, such as the reduction of dietary branched chain amino acids in MSUD, could not be omitted in s