Genetics Carbamoyl phosphate synthetase I deficiency



carbamoyl phosphate synthetase deficiency has autosomal recessive pattern of inheritance.


cps deficiency inherited in autosomal recessive manner. means defective gene responsible disorder located on autosome, , 2 copies of defective gene (one inherited each parent) required in order born disorder. parents of individual autosomal recessive disorder both carry 1 copy of defective gene, not experience signs or symptoms of disorder.








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