physiology and anatomy

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Homocystinuria

Classical Homocystinuria , also known as cystathionine beta synthase deficiency or CBS deficiency , [ 1 ] is an inherited disorder of the metabolism of the amino acid methionine , often involving cystathionine beta synthase . It is an inherited autosomal recessive trait , which means a child needs to inherit a copy of the defective gene from each parent to be affected. [ edit ] Presentation This defect leads to a multisystemic disorder of the connective tissue , muscles , CNS , and cardiovascular system . Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine . Infants appear to be normal and early symptoms, if any are present, are vague. http://en.wikipedia.org/wiki/Homocystinuria
http://en.wikipedia.org/wiki/B_vitamins

B vitamins

B vitamins are a group of water-soluble vitamins that play important roles in cell metabolism . The B vitamins were once thought to be a single vitamin, referred to as vitamin B (much as people refer to vitamin C ). Later research showed that they are chemically distinct vitamins that often coexist in the same foods.
amino acids

med student

The Journal of Nutritional Biochemistry - Dietary supplements of mixtures of indispensable amino acids lacking threonine, phenylalanine or histidine increase the activity of hepatic threonine dehydrogenase, phenylalanine hydroxylase or histidase, respecti

Received 18 July 2000 ; received in revised form 4 January 2001 ; accepted 9 January 2001. Experiments were carried out to determine whether the addition of a mixture of indispensable amino acids (IAA) lacking in threonine, phenylalanine or histidine, respectively, to a nutritionally complete diet would increase the hepatic activities of the rate-limiting enzymes for catabolism of threonine, phenylalanine or histidine and prevent the adverse effects of the amino acid on growth when the dietary level of the amino acid is excessive. Week old Leghorn chicks were fed semi-purified diets containing 19% crude protein to which were added no IAA supplement or 10% crude protein from an IAA mix and 5 graded levels of either L-threonine, L-phenylalanine or L-histidine in a 2 × 5 factorial arrangement of treatments. Each amino acid was investigated in a separate experiment involving four replicate pens (seven chicks each) per diet. http://www.jnutbio.com/article/S0955-2863(01)00139-5/abstract