Congenital disease of the hip

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

The femur is the body's longest and strongest bone spanning the thigh region. Its head articulates with the acetabulum of the hip bone to form the hip joint. A minor indentation on the medial side of the femoral head, called the fovea capitis, serves as the site of attachment for the ligament of the head of the femur. This weak ligament spans the femur and acetabulum and supports the hip joint. The narrowed region below the head is the neck of the femur. The inclination angle between the neck...

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...