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2,4-Dienoyl-CoA reductase deficiency was initially described in 1990 based on a single case of a black female who presented with persistent hypotonia. Laboratory investigations revealed elevated lysine , low levels of carnitine and an abnormal acylcarnitine profile in urine and blood.
Essential fatty acids, or EFAs, are fatty acids that are required by humans and other animals for normal physiological function that cannot be synthesized in the body. [1] [2] As they are not synthesized in the body, the essential fatty acids – alpha-linolenic acid (ALA) and linoleic acid – must be obtained from food or from a dietary supplement.
Autoimmune causes: lead to the hemolysis of red blood cells (Ex: autoimmune hemolytic anemia). [12] Hypothyroidism and chronic kidney disease [13] [14] Parasitic infestations: some examples are hookworm or Plasmodium species [7] Bacterial or viral infections. Iron deficiency is the most common cause of anemia in the pregnant woman.
Linoleic acid is a polyunsaturated, omega−6 fatty acid. It is a colorless liquid that is virtually insoluble in water but soluble in many organic solvents . [ 2 ] It typically occurs in nature as a triglyceride (ester of glycerin ) rather than as a free fatty acid . [ 6 ]
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]
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.
The first double bond is located at the third carbon from the methyl end of the fatty acid chain, known as the n end. Thus, α-linolenic acid is a polyunsaturated n−3 (omega-3) fatty acid. It is a regioisomer of gamma-linolenic acid (GLA), an 18:3 (n−6) fatty acid (i.e., a polyunsaturated omega-6 fatty acid with three double bonds).
Some of the first symptoms of a metabolic crisis are: extreme sleepiness, behavior changes, irritable mood, poor appetite. Some of these other symptoms of VLCAD in infants may also follow: fever, nausea, diarrhea, vomiting, hypoglycemia. Evaluation of symptom combinations can aid in a positive diagnosis of VLCAD. [9]