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Glycine toxicity causes hyperammonemia, which manifests as CNS symptoms and nausea. Transient blindness can also occur. [12] 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]
Severe Transient Hyperammonemia causes neurological problems as ammonia levels in the brain are too high, which can cause infant hyptotonia as well as neonatal seizures. [5] Severe Transient Hyperammonemia can also cause respiratory distress syndrome. [5] Chest x-rays may resemble hyaline membrane disease. [5]
Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6-18 months of age and almost exclusively in girls. [4] Symptoms include impairments in language and coordination, and repetitive movements. [4]
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
Congenital hyperinsulinism (HI or CHI) is a rare condition causing severe hypoglycemia (low blood sugar) in newborns due to the overproduction of insulin. [5] There are various causes of HI, some of which are known to be the result of a genetic mutation . [ 6 ]
Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders. Variant hemoglobinopathies (including Hb E) [1] Glucose-6-phosphate dehydrogenase deficiency (G6PD) Inborn errors of amino acid metabolism ...
Deficiency in N-acetylglutamate synthase or a genetic mutation in the gene coding for the enzyme will lead to urea cycle failure in which ammonia is not converted to urea, but rather accumulated in blood leading to the condition called type I hyperammonemia. This is a severe neonatal disorder with fatal consequences, if not detected immediately ...
Congenital disorders of nervous system (6 C, 60 P) N. Neurodevelopmental disorders (6 C, 24 P) T. Tay–Sachs disease (4 P) ... Transient hyperammonemia of the newborn