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Glutaric acidemia type 2 has an autosomal recessive pattern of inheritance. Mutations in the ETFA, ETFB, and ETFDH genes cause glutaric acidemia type II. Mutations in these genes result in a deficiency in one of two enzymes that normally work together in the mitochondria, which are the energy-producing centers of cells.
N-acetyl glutamate is required for the urea cycle to take place. 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 ...
The FIGLU test is used to identify vitamin B₁₂ deficiency, folate deficiency, and liver failure or liver disease. [1] [2] It is elevated with folate trapping, where it is accompanied by decreased methylmalonic acid, increased folate and a decrease in homocysteine. [3]
Glutamic acid (symbol Glu or E; [4] the anionic form is known as glutamate) is an α-amino acid that is used by almost all living beings in the biosynthesis of proteins.It is a non-essential nutrient for humans, meaning that the human body can synthesize enough for its use.
Liver function tests (LFTs or LFs), also referred to as a hepatic panel or liver panel, are groups of blood tests that provide information about the state of a patient's liver. [1] These tests include prothrombin time (PT/INR), activated partial thromboplastin time (aPTT), albumin , bilirubin (direct and indirect), and others.
Liver failure is the inability of the liver to perform its normal synthetic and metabolic functions as part of normal physiology. Two forms are recognised, acute and chronic (cirrhosis). [ 1 ] Recently, a third form of liver failure known as acute-on-chronic liver failure ( ACLF ) is increasingly being recognized.
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the blood. [2] High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide.
Liver diseases in which necrosis of hepatocytes is the predominant event, such as toxic liver damage or hypoxic liver disease, are characterised by high serum GLDH levels. GLDH is important for distinguishing between acute viral hepatitis and acute toxic liver necrosis or acute hypoxic liver disease, particularly in the case of liver damage ...