physiology and anatomy
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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.
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.