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Phenylketonuria is an inherited genetic disorder. It is caused by mutations in the PAH gene, which can result in inefficient or nonfunctional phenylalanine hydroxylase, an enzyme responsible for the metabolism of excess phenylalanine. This results in the buildup of dietary phenylalanine to potentially toxic levels.
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. [1][2] The first variant is termed dominant and the second is called recessive. This state of having two different variants of the same gene on ...
For a dominant trait to be displayed, an individual only requires one dominant allele, whereas expressing a recessive trait requires the possession of two recessive alleles at the same time. X-linked genetic disorders can arise when there is a spontaneous and permanent change in the DNA sequence of an X-linked gene, known as mutation. Traits or ...
Phenylketonuria (PKU)-like symptoms, including more pronounced developmental defects, skin irritation, and vomiting, may appear when phenylalanine levels are near 20 mg/dL (1200 mol/L). [1] Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of ...
X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
Compound heterozygosity. In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles ...
Medical genetics. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease. [1][2] It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and ...
The researchers demonstrated that this gene therapy method is a more permanent way to increase therapeutic HbF production. [194] Phase 1 clinical trials of gene therapy for sickle cell disease in humans were started in 2014. The clinical trials assessed the safety of lentiviral vector-modified bone marrow for adults with severe sickle cell disease.
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