Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine in the blood. Phenylketonuria (PKU) can result in severe hyperphenylalaninemia. Phenylalanine concentrations ([phe]) are routinely screened in newborns by the neonatal heel prick (Guthrie test), which takes a few drops of blood from the heel of the infant. Standard [phe] concentrations in unaffected persons are about 60µM: [phe] concentrations in persons with untreated phenylketonuria may be many times that (600µM to 2400µM), which indicate that the child is at risk for severe intellectual disability. Phenylketonuria is classed as an autosomal recessive condition: in heterozygous form, [phe] shows a moderate elevation, perhaps two-fold over that of unaffected homozygotes, which is classified as hyperphenylalaninemia (hyper- + phenylalanine + -emia = high [phe] in blood). Symptoms and signs
The coloration of the skin, hair, and eyes is different in children with PKU. This is caused by low levels of tyrosine, whose metabolic pathway is blocked by deficiency of PAH. Another skin alteration that might occur is the presence of irritation or dermatitis. The childs behaviour may be influenced as well due to augmented levels of phenethylamine which in turn affects levels of other amines in the brain. Psychomotor function may be affected and observed to worsen progressively. Cause
People with the genotype for PKU are unaffected in utero, because maternal circulation prevents buildup of [phe]. After birth, PKU in newborns is treated by a special diet with highly restricted phenylalanine content.
Enteritis is inflammation of the small intestine. It is most commonly caused by food or drink contaminated with pathogenic microbes, such as serratia, but may have other causes such as NSAIDs, radiation therapy as well as autoimmune conditions like Crohns disease and celiac disease. Symptoms include abdominal pain, cramping, diarrhea, dehydration, and fever. Related diseases of the gastrointestinal system include inflammation of the stomach and large intestine. Duodenitis, jejunitis and ileitis are subtypes of enteritis which are localised to a specific part of the small intestine. Inflammation of both the stomach and small intestine is referred to as gastroenteritis. Signs and symptoms
Signs and symptoms of enteritis are highly variable and vary based on the specific cause and other factors such as individual variance and stage of disease. Symptoms may include abdominal pain, cramping, diarrhea, dehydration, fever, nausea, vomiting and weight loss. Causes
Autoimmune
Crohns disease – also known as regional enteritis, it can occur along any surface of the gastrointestinal tract. In 40% of cases, it is limited to the small intestine.Coeliac disease – caused by an autoimmune reaction to gluten by genetically predisposed individuals.Eosinophilic enteropathy – a condition where eosinophils build up in the gastrointestinal tract and blood vessels, leading to polyp formation, necrosis, inflammation and ulcers. It is most commonly seen in patients with a history of atopy, however is overall relatively uncommon. Infectious enteritis
In Germany, 90% of cases of infectious enteritis are caused by four pathogens, Norovirus, Rotavirus, Campylobacter and Salmonella.