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Alpha-fetoprotein (AFP, α-fetoprotein; also sometimes called alpha-1-fetoprotein, alpha-fetoglobulin, or alpha fetal protein) is a protein [5] [6] that in humans is encoded by the AFP gene. [ 7 ] [ 8 ] The AFP gene is located on the q arm of chromosome 4 (4q13.3). [ 9 ]
Other causes include: infiltrative liver diseases, granulomatous liver disease, abscess, amyloidosis of the liver and peripheral arterial disease. Mild elevation of ALP can be seen in liver cirrhosis, hepatitis, and congestive cardiac failure. Transient hyperphosphataemia is a benign condition in infants, and can reach normal level in 4 months.
Acute fatty liver of pregnancy is a rare life-threatening complication of pregnancy that occurs in the third trimester or the immediate period after delivery. [1] It is thought to be caused by a disordered metabolism of fatty acids by mitochondria in the fetus, caused by long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. [2]
It is the L1 isoform which is typically associated with non-HCC inflammation of liver disease condition. The L3 isoform is specific to malignant tumors and its detected presence can serve to identify patients whom need increased monitoring for the development of HCC in high risk populations (i.e. chronic hepatitis B and C and/or liver cirrhosis).
GSD Ia is caused by a deficiency in the enzyme glucose-6-phosphatase; GSD Ib, a deficiency in the transport protein glucose-6-phosphate translocase. Because glycogenolysis is the principal metabolic mechanism by which the liver supplies glucose to the body during fasting , both deficiencies cause severe hypoglycemia and, over time, excess ...
The most common method of testing for hepatoblastoma is a blood test checking the alpha-fetoprotein level. Alpha-fetoprotein (AFP) is used as a biomarker to help determine the presence of liver cancer in children. At birth, infants have relatively high levels of AFP, which fall to normal adult levels by the second year of life.
When the liver is involved, alpha-1-antitrypsin deficiency and Wilson's disease tend to present as hepatitis in the neonatal period or in childhood. [33] Hemochromatosis typically presents in adulthood, with the onset of clinical disease usually after age 50.
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.