An infant with refusal to weight bear and pancytopenia

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 initiation of cell-mediated immunity can be observed as early as the third month of fetal growth, with active antibody-mediated immunity following approximately one month later.
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...

Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...

Anorexia nervosa is a complex and severe eating disorder characterized by an intense fear of weight gain, an unrelenting pursuit of thinness, and a distorted body image. It often leads to dangerously low body weight relative to an individual's age and height. This disorder is marked by significant physical and psychological consequences, making it one of the most life-threatening psychiatric illnesses.
Symptoms and Physical Effects
Individuals with anorexia nervosa commonly exhibit extreme...

Respiratory failure can manifest suddenly or gradually, characterized by a rapid decline in PaO2 and a rapid rise in PaCO2. This situation indicates a severe respiratory problem that may quickly become a life-threatening emergency. One of the early signs of hypoxemic Acute Respiratory Failure (ARF) is a change in mental status due to the brain's sensitivity to oxygen levels and changes in acid-base balance. Symptoms such as restlessness, confusion, and agitation suggest inadequate oxygen...