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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Summary of fatty acid oxidation disorders

Summary of fatty acid oxidation disorders
  Enzyme Gene Prevalence Symptoms Other complications Plasma acylcarnitines
VLCADD Very long-chain acyl-CoA dehydrogenase deficiency ACADVL 1 in 42,500 to 120,000 G, L, C, M, R   Elevated C14:1–, C14–, C16:1–, C16–
LCHADD Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency HADHA 1 in 110,000 G, L, C, M, R Retinopathy, peripheral neuropathy Elevated C16:1–OH–, C16–OH–, C18:1–OH–, C18–OH–
TFPD Trifunctional protein deficiency HADHA, HADHB Rare G, L, C, M, R Retinopathy, peripheral neuropathy Elevated C16:1–OH–, C16–OH–, C18:1–OH–, C18–OH–
CTD Carnitine transporter deficiency SLC22A5 1 in 20,000 to 120,000 G, L, C, M, R NBS maternal CTD Low total and free carnitine levels
CACTD Carnitine-acylcarnitine translocase deficiency SLC25A20 Rare  G, L, C   Elevated C16–, C16:1–, C18, C18:1–
CPT1D Carnitine palmitoyltransferase 1A deficiency CPT1A 1 in 500,000 G, L Renal tubular acidosis, Arctic variant Elevated total and free plasma carnitine levels
CPT2D Carnitine palmitoyltransferase 2 deficiency CPT2 Rare  G, L, C, M, R Renal cysts, facial dysmorphism Elevated C16–, C16:1–, C18, C18:1–
MCADD Medium-chain acyl-CoA dehydrogenase deficiency ACADM

1 in 20,000

1 in 51,000 to 263,000[1]
G, L   Elevated C6–, C8–, C10–, C10:1–
MADD Multiple acyl-CoA dehydrogenase deficiency ETFA, ETFB, ETFDH 1 in 15,000 to 2,000,000[2]  G, L, C, M Renal cysts, congenital malformations, facial dysmorphism, sweaty foot odor Elevated C4–, C5–, C5DC–, C6–, C8–, C10:1–, C12–, C14–, C14:1–, C16–, C16:1–, C18–, C18:1–, C16–OH–, C16:1–OH–, C18–OH–, C18:1–OH–
SCADD Short-chain acyl-CoA dehydrogenase deficiency ACADS 1 in 35,000 to 50,000   Asymptomatic Elevated C4–
M/SCHAD Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency HADH Rare    Hyperinsulinism Elevated C4–OH–
ACADVL: acyl-CoA dehydrogenase, very long-chain gene; G: hypoglycemia; L: liver dysfunction; C: cardiomyopathy; M: skeletal myopathy; R: rhabdomyolysis; HADHA: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit; HADHB: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit; SLC22A5: solute carrier family 22 member 5 gene; NBS: newborn screening; SLC25A20: solute carrier family 25 member 20 gene; CPT1A: carnitine palmitoyltransferase 1A; CPT2: carnitine palmitoyltransferase 2; ACADM: acyl-CoA dehydrogenase, C-4 to C-12 straight chain; ETFA: electron transfer flavoprotein, alpha subunit; ETFB: electron transfer flavoprotein, beta subunit; ETFDH: electron transfer flavoprotein dehydrogenase; ACADS: acyl-CoA dehydrogenase, C-2 to C-3 short-chain; HADH: 3-hydroxyacyl-CoA dehydrogenase.
References:
  1. Merritt JW II, Chang IJ. Medium-chain acyl-coenzyme A dehydrogenase deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al, GeneReviews [Internet], University of Washington, Seattle, 2000 (updated 2019).
  2. Linder M, Hoffmann GF, Matern D. Newborn screening for disorders of fatty-acid oxidation: Experience and recommendations from an expert meeting. J Inherit Metab Dis 2010; 33:521.
Adapted from: Sun A, Merritt JW II. Orphan drugs in development for long-chain fatty acid oxidation disorders: Challenges and progress. Orph Drug Res Rev 2015; 5:33.
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