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Failure to thrive- Insufficient weight gain, or drastic levels of weight loss in children; Hypocholesterolemia- Low blood cholesterol levels; Hepatic Steatosis (Fatty Liver)- Excessive fat buildup in the liver, a result of the abnormal lipid panels of CMRD patients; Hyporeflexia- Absent or low levels of muscle reflexes
Most individuals with a fatty-acid metabolism disorder are able to live a normal active life with simple adjustments to diet and medications. If left undiagnosed many complications can arise. When in need of glucose the body of a person with a fatty-acid metabolism disorder will still send fats to the liver. The fats are broken down to fatty acids.
Lysosomal acid lipase deficiencies occur when a person has defects (mutations) in both copies of the LIPA gene. Each parent of a person with LAL deficiency carries one copy of the defective LIPA gene. With every pregnancy, parents with a son or daughter affected by LAL deficiency have a 1 in 4 (25%) chance of having another affected child.
Very long-chain acyl-coenzyme A dehydrogenase deficiency is a fatty-acid metabolism disorder which prevents the body from converting certain fats to energy, particularly during periods without food. [1] [2] [3] Those affected by this disorder have inadequate levels of an enzyme that breaks down a group of fats called very long-chain fatty acids.
These fatty acids are stored in the body's fat tissues and are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. [10] [11] [12] Mutations in the HADHA or HADHB genes that cause mitochondrial trifunctional protein deficiency disrupt all ...
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency or MCADD) is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA. The disorder is characterized by hypoglycemia and sudden death without timely intervention, most often brought on by periods of fasting or vomiting.
Nutritional deficiency is far from a leading cause of death in the United States, but the mortality rate has grown significantly enough in recent years to impact life expectancy.
By-products of fatty acid processing build up in tissues, which also contributes to the signs and symptoms of malonic aciduria. Malonic aciduria is inherited in an autosomal recessive pattern. [ 1 ] This means that the defective gene is located on an autosome (chromosome 16 is an autosome), and two copies of the defective gene - one inherited ...