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Homocystinuria Learning Center
Causes could include:
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Homocystinuria is inherited in families as an autosomal recessive trait. This means that the child must inherit the defective gene from both parents to be seriously affected.
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Classical homocystinuria or cystathionine b-synthase (CBS) deficiency is an autosomal recessive condition. This means that in order to have the condition, an individual must inherit one copy of the gene for CBS deficiency from each parent. An indi...
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Classical homocystinuria or cystathionine b-synthase (CBS) deficiency is an autosomal recessive condition. This means that in order to have the condition, an individual must inherit one copy of the gene for CBS deficiency from each parent. An indi...
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Conditions with a link to the individual's genetic make-up. Genetic disorders are conditions that can be traced to an individual's heredity. Many of these disorders are inherited and are governed by the same genetic rules that determine dimples an...
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Any unusual variation or abnormality in the shape, structure, and/or function of an organ, body part, or tissue is commonly referred to as a birth defect. However, congenital anomaly is the more accurate and preferred term, since birth defect can ...
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Variations within the DNA sequence of a particular gene affect its function, and may cause or predispose an individual a particular disease. Alterations in the genome may increase the frequency of disorder and disease with entire populations. Alth...
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The traditional method used to study an inherited disease is to observe the pattern of its distribution in families through examination of a pedigree, the construction of which begins with the individual first known to have the disease. The pedigr...
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Variations within the DNA sequence of a particular gene affect its function and may cause or predispose an individual a particular disease. Alterations in the genome may increase the frequency of disorder and disease with entire populations. Altho...
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