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– |
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