Which vitamin deficiency causes homocystinuria?

Homocystinuria. Homocystinuria is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase. Symptoms of homocystinuria can also be caused by a deficiency of vitamins B6, B12, or folate.Click to see full answer. Herein, what is the cause of homocystinuria?Mutations in the CBS gene cause the most common form of homocystinuria. The CBS gene provides instructions for producing an enzyme called cystathionine beta-synthase. This enzyme acts in a chemical pathway and is responsible for converting the amino acid homocysteine to a molecule called cystathionine. what are the symptoms associated with homocystinuria? dislocation of the lenses in the eyes. nearsightedness. abnormal blood clots. osteoporosis, or weakening of the bones. learning disabilities. developmental problems. chest deformities, such as a protrusion or a caved-in appearance of the breastbone. long, spindly arms and legs. Correspondingly, what is homocystinuria? Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and others) in blood and urine. Normally, these metabolites are not found in appreciable quantities in blood or urine.Which genetic defect is most commonly responsible for inherited homocystinuria and what is the mode of inheritance?Homocystinuria due to CBS deficiency is inherited in an autosomal recessive pattern. The means that both copies of the CBS gene in every cell have mutations . To have the disorder, a person must have a mutation in both copies of the responsible gene in each cell.