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Metabolic - MedlinePlus Genetics

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Last Updated: 15 May 2022

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Carbonic anhydrase VA deficiency

During an episode, people with carbonic anhydrase VA deficiency have excess ammonia in the blood, acid-base imbalance in the blood, low glucose levels in the blood, and reduced production of a substance called bicarbonate in the liver. People with carbonic anhydrase VA deficiency first experience episodes of the disorder around age 2. Between episodes, children with carbonic anhydrase VA deficiency are generally healthy, and more than half have no further episodes since the first one. Since childhood, the risk of metabolic disease and acute encephalopathy is expected to diminish. Adults with carbonic anhydrase VA deficiency who have come to medical attention are unaware of the fact that adult adults with this disorder are not well understood.

Source link: https://medlineplus.gov/genetics/condition/carbonic-anhydrase-va-deficiency


SLC4A1-associated distal renal tubular acidosis

In people with distal renal tubular acidosis, the kidneys normally filter fluid and waste products from the body and eliminate them in urine; however, in people with distal renal tubular acidosis, the kidneys are unable to remove sufficiently acid from the blood, and the blood becomes too acidic. Bone pain, bowed legs, and walking difficulties have been all characteristic of this bone disorder. In addition, most children and adults with SLC4A1-associated renal tubular acidosis have excess calcium in the urine, calcium deposits in the kidneys, and kidney stones. Low potassium levels in the blood may also be present in Affected individuals. Some people do not have metabolic acidosis even though their kidneys have trouble removing acids; these people are suspected of incomplete distal tubular acidosis, according to these patients. In addition, these individuals may have other signs of distal renal tubular acidosis, such as bone disease and kidney stones. Often, people who have incomplete distal renal tubular acidosis develop metabolic acidosis later in life. People with SLC4A1-associated distal tubular acidosis also have blood cell abnormalities, according to blood cell samples. These can range in severity from no symptoms to hemolytic anemia, in which red blood cells prematurely break down, triggering a shortage of red blood cells. The autosomal recessive form is always associated with complete distal renal tubular acidosis and is more commonly associated with blood cell abnormalities, although not everyone with this condition has abnormal blood cells.

Source link: https://medlineplus.gov/genetics/condition/slc4a1-associated-distal-renal-tubular-acidosis


Non-alcoholic fatty liver disease

Non-alcoholic fatty liver disease is a buildup of excess fat in the liver that may cause liver damage similar to alcohol use, but it does not occur in people who do not drink heavily. The liver naturally contains some fat, but an individual is considered to have a fatty liver if the liver contains more than 10% fat. The liver deposits associated with NAFLD generally have no symptoms, but they can lead to elevated levels of liver enzymes that are not present in routine blood tests. Both 7 and 30 percent of people with NAFLD experience liver inflammation that can cause liver damage, which leads to liver damage. However, acute or long-term injury may lead to the replacement of normal liver tissue with scar tissue, leading to irreversible liver disease that causes the liver to stop functioning properly. Scarring in the vein that draws blood into the liver from the other digestive organs can lead to elevated pressure in the blood vessel, resulting in enlarged blood vessels within the digestive system. Many cases of cirrhosis with no apparent root cause have been reported by NAFLD and NASH; at least one-third of people with NASH experience cirrhosis. However, a person with NAFLD may not have any or any of the other disorders that contribute to the metabolic syndrome, and people with any or none of those conditions do not have NAFLD.

Source link: https://medlineplus.gov/genetics/condition/non-alcoholic-fatty-liver-disease


3-hydroxy-3-methylglutaryl-CoA lyase deficiency

The absence of a leucine-coademia syndrome is uncommon inherited disorder in which the body is unable to recognize a specific protein building block called leucine. Most signs and symptoms of HMG-CoA lyase deficiency appear within the first year of life. During an episode, blood sugar levels can be dangerously low, and a buildup of harmful chemicals can cause the blood to become too acidic. The majority of Reye syndrome cases have been related to the use of aspirin in these viral infections.

Source link: https://medlineplus.gov/genetics/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions