2017-08-01T17:30:01+03:00[Europe/Moscow] en true Carnitine palmitoyltransferase I deficiency, Sjögren–Larsson syndrome, Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, 2,4 Dienoyl-CoA reductase deficiency, Propionic acidemia, Fatty-acid metabolism disorder, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Carnitine palmitoyltransferase II deficiency, Systemic primary carnitine deficiency, Adrenoleukodystrophy, Refsum disease, Carnitine-acylcarnitine translocase deficiency, Mitochondrial trifunctional protein deficiency, Very long-chain acyl-coenzyme A dehydrogenase deficiency, Malonyl-CoA decarboxylase deficiency, Short-chain acyl-coenzyme A dehydrogenase deficiency, Acute fatty liver of pregnancy flashcards
Fatty-acid metabolism disorders

Fatty-acid metabolism disorders

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  • Carnitine palmitoyltransferase I deficiency
    Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food.
  • Sjögren–Larsson syndrome
    Sjögren–Larsson syndrome (SLS) is an autosomal recessive form of ichthyosis apparent at birth.
  • Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
    Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, often shortened to LCHAD deficiency, is a rare autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats into energy.
  • 2,4 Dienoyl-CoA reductase deficiency
    2,4 Dienoyl-CoA reductase deficiency is an inborn error of metabolism resulting in defective fatty acid oxidation caused by a deficiency of the enzyme 2,4 Dienoyl-CoA reductase.
  • Propionic acidemia
    Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia.
  • Fatty-acid metabolism disorder
    A broad classification for genetic disorders that result from an inability of the body to produce or utilize one enzyme that is required to oxidize fatty acids.
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency
    Medium-chain acyl-CoA dehydrogenase deficiency, often known as 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.
  • Carnitine palmitoyltransferase II deficiency
    Carnitine palmitoyltransferase II deficiency (CPT-II) is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source.
  • Systemic primary carnitine deficiency
    Systemic primary carnitine deficiency, (SPCD) also known as carnitine uptake defect, carnitine transporter deficiency (CTD) or systemic carnitine deficiency is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine across the plasma membrane.
  • Adrenoleukodystrophy
    Adrenoleukodystrophy (/-ˌlu-koʊ-ˈdis-trə-fiː/; also known as X-linked adrenoleukodystrophy, ALD, X-ALD, Siemerling–Creutzfeldt disease or bronze Schilder disease) is a disease that is linked on the X chromosome.
  • Refsum disease
    Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis, phytanic acid oxidase deficiency and phytanic acid storage disease, is an autosomal recessive neurological disease that results from the over-accumulation of phytanic acid in cells and tissues.
  • Carnitine-acylcarnitine translocase deficiency
    Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food.
  • Mitochondrial trifunctional protein deficiency
    Mitochondrial trifunctional protein deficiency is an autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats to energy, particularly during periods without food .
  • Very long-chain acyl-coenzyme A dehydrogenase deficiency
    Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a fatty acid oxidation disorder which prevents the body from converting certain fats to energy, particularly during periods without food.
  • Malonyl-CoA decarboxylase deficiency
    Malonyl-CoA decarboxylase deficiency (MCD), or Malonic aciduria is an autosomal-recessive metabolic disorder caused by a genetic mutation that disrupts the activity of Malonyl-Coa decarboxylase.
  • Short-chain acyl-coenzyme A dehydrogenase deficiency
    Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD), also called ACADS deficiency and SCAD deficiency, is an autosomal recessive fatty acid oxidation disorder which affects enzymes required to break down a certain group of fats called short chain fatty acids.
  • Acute fatty liver of pregnancy
    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.