Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset

A H Smelt, B J Poorthuis, W Onkenhout, H R Scholte, B S Andresen, S G van Duinen, N Gregersen, A R Wintzen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Very long chain acyl-coenzyme A (acyl-CoA) dehydrogenase (VLCAD) deficiency is a severe disorder of mitochondrial beta-oxidation in infants. We report adult onset of attacks of painful rhabdomyolysis. Gas chromatography identified strongly elevated levels of tetradecenoic acid, 14:1(n-9), tetradecadienoic acid, 14:2(n-6), and hexadecadienoic acid, 16:2(n-6). Palmitoyl-CoA and behenoyl-CoA dehydrogenase in fibroblasts were deficient. Muscle VLCAD activity was very low. DNA analysis revealed compound heterozygosity for two missense mutations in the VLCAD gene. The relatively mild clinical course may be due to residual enzyme activity as a consequence of the two missense mutations. Treatment with L-carnitine and medium chain triglycerides in the diet did not reduce the attacks of rhabdomyolysis.

OriginalsprogEngelsk
TidsskriftAnnals of Neurology
Vol/bind43
Udgave nummer4
Sider (fra-til)540-4
Antal sider5
ISSN0364-5134
DOI
StatusUdgivet - apr. 1998

Fingeraftryk

Long-Chain Acyl-CoA Dehydrogenase
Rhabdomyolysis
Missense Mutation
Acids
Palmitoyl Coenzyme A
Gas Chromatography
Oxidoreductases
Fibroblasts
Diet
Muscles
DNA
Enzymes

Citer dette

Smelt, A. H., Poorthuis, B. J., Onkenhout, W., Scholte, H. R., Andresen, B. S., van Duinen, S. G., ... Wintzen, A. R. (1998). Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Annals of Neurology, 43(4), 540-4. https://doi.org/10.1002/ana.410430422
Smelt, A H ; Poorthuis, B J ; Onkenhout, W ; Scholte, H R ; Andresen, B S ; van Duinen, S G ; Gregersen, N ; Wintzen, A R. / Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. I: Annals of Neurology. 1998 ; Bind 43, Nr. 4. s. 540-4.
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abstract = "Very long chain acyl-coenzyme A (acyl-CoA) dehydrogenase (VLCAD) deficiency is a severe disorder of mitochondrial beta-oxidation in infants. We report adult onset of attacks of painful rhabdomyolysis. Gas chromatography identified strongly elevated levels of tetradecenoic acid, 14:1(n-9), tetradecadienoic acid, 14:2(n-6), and hexadecadienoic acid, 16:2(n-6). Palmitoyl-CoA and behenoyl-CoA dehydrogenase in fibroblasts were deficient. Muscle VLCAD activity was very low. DNA analysis revealed compound heterozygosity for two missense mutations in the VLCAD gene. The relatively mild clinical course may be due to residual enzyme activity as a consequence of the two missense mutations. Treatment with L-carnitine and medium chain triglycerides in the diet did not reduce the attacks of rhabdomyolysis.",
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Smelt, AH, Poorthuis, BJ, Onkenhout, W, Scholte, HR, Andresen, BS, van Duinen, SG, Gregersen, N & Wintzen, AR 1998, 'Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset', Annals of Neurology, bind 43, nr. 4, s. 540-4. https://doi.org/10.1002/ana.410430422

Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. / Smelt, A H; Poorthuis, B J; Onkenhout, W; Scholte, H R; Andresen, B S; van Duinen, S G; Gregersen, N; Wintzen, A R.

I: Annals of Neurology, Bind 43, Nr. 4, 04.1998, s. 540-4.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset

AU - Smelt, A H

AU - Poorthuis, B J

AU - Onkenhout, W

AU - Scholte, H R

AU - Andresen, B S

AU - van Duinen, S G

AU - Gregersen, N

AU - Wintzen, A R

PY - 1998/4

Y1 - 1998/4

N2 - Very long chain acyl-coenzyme A (acyl-CoA) dehydrogenase (VLCAD) deficiency is a severe disorder of mitochondrial beta-oxidation in infants. We report adult onset of attacks of painful rhabdomyolysis. Gas chromatography identified strongly elevated levels of tetradecenoic acid, 14:1(n-9), tetradecadienoic acid, 14:2(n-6), and hexadecadienoic acid, 16:2(n-6). Palmitoyl-CoA and behenoyl-CoA dehydrogenase in fibroblasts were deficient. Muscle VLCAD activity was very low. DNA analysis revealed compound heterozygosity for two missense mutations in the VLCAD gene. The relatively mild clinical course may be due to residual enzyme activity as a consequence of the two missense mutations. Treatment with L-carnitine and medium chain triglycerides in the diet did not reduce the attacks of rhabdomyolysis.

AB - Very long chain acyl-coenzyme A (acyl-CoA) dehydrogenase (VLCAD) deficiency is a severe disorder of mitochondrial beta-oxidation in infants. We report adult onset of attacks of painful rhabdomyolysis. Gas chromatography identified strongly elevated levels of tetradecenoic acid, 14:1(n-9), tetradecadienoic acid, 14:2(n-6), and hexadecadienoic acid, 16:2(n-6). Palmitoyl-CoA and behenoyl-CoA dehydrogenase in fibroblasts were deficient. Muscle VLCAD activity was very low. DNA analysis revealed compound heterozygosity for two missense mutations in the VLCAD gene. The relatively mild clinical course may be due to residual enzyme activity as a consequence of the two missense mutations. Treatment with L-carnitine and medium chain triglycerides in the diet did not reduce the attacks of rhabdomyolysis.

KW - Acyl-CoA Dehydrogenase, Long-Chain

KW - Adult

KW - Age of Onset

KW - Biopsy

KW - Ca(2+) Mg(2+)-ATPase

KW - Carnitine

KW - Cells, Cultured

KW - Citrate (si)-Synthase

KW - Exercise

KW - Fatty Acids, Unsaturated

KW - Female

KW - Fibroblasts

KW - Humans

KW - Mitochondria, Muscle

KW - Muscle, Skeletal

KW - Oxygen Consumption

KW - Palmitic Acid

KW - Rhabdomyolysis

KW - Skin

U2 - 10.1002/ana.410430422

DO - 10.1002/ana.410430422

M3 - Journal article

VL - 43

SP - 540

EP - 544

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 4

ER -

Smelt AH, Poorthuis BJ, Onkenhout W, Scholte HR, Andresen BS, van Duinen SG et al. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Annals of Neurology. 1998 apr;43(4):540-4. https://doi.org/10.1002/ana.410430422