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Neonatology. Transient hyperammonemia of the newborn (THAN) is an idiopathic disorder occasionally present in preterm newborns but not always symptomatic. [1] Continuous dialysis or hemofiltration have proven to be the most effective treatment. [1][2] Nutritional support and sodium benzoate have also been used to treat THAN.
Glycine toxicity causes hyperammonemia, which manifests as CNS symptoms and nausea. Transient blindness can also occur. [11] Congenital hyperammonemia is usually due to genetic defects in one of the enzymes of the urea cycle, such as ornithine transcarbamylase deficiency, which leads to lower production of urea from ammonia. [citation needed]
Citrullinemia type I (CTLN1), also known as arginosuccinate synthetase deficiency, is a rare disease caused by a deficiency in argininosuccinate synthetase, an enzyme involved in excreting excess nitrogen from the body. [1] There are mild and severe forms of the disease, which is one of the urea cycle disorders.
Neonatal sepsis. Neonatal sepsis is a type of neonatal infection and specifically refers to the presence in a newborn baby of a bacterial blood stream infection (BSI) (such as meningitis, pneumonia, pyelonephritis, or gastroenteritis) in the setting of fever. Older textbooks may refer to neonatal sepsis as "sepsis neonatorum".
Neonatal teeth. Natal teeth are teeth that are present above the gumline (have already erupted) at birth, and neonatal teeth are teeth that emerge through the gingiva during the first month of life (the neonatal period). [1][2] The incidence of neonatal teeth varies considerably, between 1:700 and 1:30,000 depending on the type of study; the ...
Pediatrics, Infectious disease. Neonatal tetanus (trismus nascentium) is a form of generalised tetanus that occurs in newborns. Infants who have not acquired passive immunity from an immunized mother are at risk. It usually occurs through infection of the unhealed umbilical stump, particularly when the stump is cut with a non-sterile instrument.
Neonatal diabetes. Neonatal diabetes mellitus (NDM) is a disease that affects an infant and their body's ability to produce or use insulin. NDM is a kind of diabetes that is monogenic (regulated by a single gene) and arises in the first 6 months of life. Infants do not produce enough insulin, leading to an increase in glucose accumulation.
Glycine encephalopathy is a rare autosomal recessive disorder of glycine metabolism. After phenylketonuria, glycine encephalopathy is the second most common disorder of amino acid metabolism. The disease is caused by defects in the glycine cleavage system, an enzyme responsible for glycine catabolism. There are several forms of the disease ...