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Abnormality of the liver
- ... extra fingers or toes (polydactyly). Additional features include abnormalities in one or more organs, including the heart, kidneys, liver, and intestines. The severity of this condition is ...
- ... body. Affected individuals can have enlargement of the liver and spleen (hepatosplenomegaly), blood cell abnormalities, and rarely, severe neurological problems. The variants occur ...
- ... lectin complement pathway, which explains why immune system abnormalities are not part of 3MC syndrome. More About This Health Condition 3MC3 CL-34 CL-L1 CLL1 collectin liver 1 collectin liver protein 1 collectin sub-family ...
- ... Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing ...
- ... have fewer copies of mtDNA (mtDNA depletion). This abnormality is seen ... brain, muscle, and liver. These tissues are most affected because they are ...
- ... The most widely studied polymorphism associated with this abnormality, ... compounds into the liver, which leads to elevated levels of the compounds ...
- ... and platelets may account for the other blood abnormalities that sometimes occur in ... digest fats) from the liver, where bile is produced, to the gallbladder, where ...
- ... acid also plays a role in the skeletal abnormalities found in severe cases. ... affect how the liver processes medications. The role of this enzyme in ...
- The PKLR gene is active (expressed) in the liver and in red blood cells, where it provides ... R/L pyruvate kinase type L pyruvate kinase, liver and blood cell pyruvate kinase, liver and RBC ...
- ... but its activity (expression) is highest in the liver. Within cells, the FALDH enzyme is located in the ... neurological abnormalities; and eye problems. Many of these mutations change ...