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Very long chain acyl-CoA dehydrogenase deficiency(ACADVLD)

MedGen UID:
854382
Concept ID:
C3887523
Disease or Syndrome
Synonyms: Acadvl; Acyl-Coa Dehydrogenase Very Long Chain Deficiency; Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency of; Pearson Marrow-Pancreas Syndrome; Pearson's marrow-pancreas syndrome; Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction; Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency; Very long-chain acyl-CoA dehydrogenase deficiency; Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency; VLCAD deficiency; Vlcad-C; Vlcad-H
SNOMED CT: Very long chain acyl-coenzyme A dehydrogenase deficiency (237997005); Very long chain acyl-CoA dehydrogenase deficiency (237997005); VLCAD - Very long chain acyl-CoA dehydrogenase deficiency (237997005)
 
OMIM®: 201475; 557000; 609575

Definition

An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVery long chain acyl-CoA dehydrogenase deficiency

Recent clinical studies

Etiology

Ko JM, Seo J, Choi M, Song J, Lee KA, Shin CH
Ann Clin Lab Sci 2016 Winter;46(1):97-101. PMID: 26927351
Diekman EF, Visser G, Schmitz JP, Nievelstein RA, de Sain-van der Velden M, Wardrop M, Van der Pol WL, Houten SM, van Riel NA, Takken T, Jeneson JA
PLoS One 2016;11(2):e0147818. Epub 2016 Feb 16 doi: 10.1371/journal.pone.0147818. PMID: 26881790Free PMC Article
Takahashi Y, Sano R, Nakajima T, Kominato Y, Kubo R, Takahashi K, Ohshima N, Hirano T, Kobayashi S, Shimada T, Tokue H, Awata S, Hirasawa S, Ishige T
Forensic Sci Int 2014 Nov;244:e34-7. Epub 2014 Sep 6 doi: 10.1016/j.forsciint.2014.08.031. PMID: 25242572
Zhang RN, Li YF, Qiu WJ, Ye J, Han LS, Zhang HW, Lin N, Gu XF
World J Pediatr 2014 May;10(2):119-25. Epub 2014 May 7 doi: 10.1007/s12519-014-0480-2. PMID: 24801231
Merritt JL 2nd, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A
Mol Genet Metab 2014 Apr;111(4):484-92. Epub 2014 Jan 23 doi: 10.1016/j.ymgme.2014.01.009. PMID: 24503138

Diagnosis

Ko JM, Seo J, Choi M, Song J, Lee KA, Shin CH
Ann Clin Lab Sci 2016 Winter;46(1):97-101. PMID: 26927351
Stępień KM, Roberts M, Hendriksz CJ
Dev Period Med 2015 Oct-Dec;19(4):450-3. PMID: 26982752
Brown A, Crowe L, Andresen BS, Anderson V, Boneh A
Mol Genet Metab 2014 Dec;113(4):278-82. Epub 2014 Oct 12 doi: 10.1016/j.ymgme.2014.10.005. PMID: 25456746
Zhang RN, Li YF, Qiu WJ, Ye J, Han LS, Zhang HW, Lin N, Gu XF
World J Pediatr 2014 May;10(2):119-25. Epub 2014 May 7 doi: 10.1007/s12519-014-0480-2. PMID: 24801231
Merritt JL 2nd, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A
Mol Genet Metab 2014 Apr;111(4):484-92. Epub 2014 Jan 23 doi: 10.1016/j.ymgme.2014.01.009. PMID: 24503138

Therapy

Ficicioglu C, Hussa C
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S187-90. Epub 2009 Apr 4 doi: 10.1007/s10545-009-1143-7. PMID: 19333779
Arnold GL, Van Hove J, Freedenberg D, Strauss A, Longo N, Burton B, Garganta C, Ficicioglu C, Cederbaum S, Harding C, Boles RG, Matern D, Chakraborty P, Feigenbaum A
Mol Genet Metab 2009 Mar;96(3):85-90. Epub 2009 Jan 20 doi: 10.1016/j.ymgme.2008.09.008. PMID: 19157942Free PMC Article
Voermans NC, Poels PJ, Kluijtmans LA, van Engelen BG
Neuromuscul Disord 2005 Dec;15(12):844-6. Epub 2005 Nov 8 doi: 10.1016/j.nmd.2005.09.003. PMID: 16288870
Boles RG
J Inherit Metab Dis 2002 Aug;25(4):315-6. PMID: 12227461
Doi T, Abo W, Tateno M, Hayashi K, Hori T, Nakada T, Fukao T, Takahashi Y, Terada N
Eur J Pediatr 2000 Dec;159(12):908-11. PMID: 11131350

Prognosis

Hisahara S, Matsushita T, Furuyama H, Tajima G, Shigematsu Y, Imai T, Shimohama S
Tohoku J Exp Med 2015;235(4):305-10. doi: 10.1620/tjem.235.305. PMID: 25843429
Zhang RN, Li YF, Qiu WJ, Ye J, Han LS, Zhang HW, Lin N, Gu XF
World J Pediatr 2014 May;10(2):119-25. Epub 2014 May 7 doi: 10.1007/s12519-014-0480-2. PMID: 24801231
Merritt JL 2nd, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A
Mol Genet Metab 2014 Apr;111(4):484-92. Epub 2014 Jan 23 doi: 10.1016/j.ymgme.2014.01.009. PMID: 24503138
Vellekoop P, Diekman EF, van Tuijl I, de Vries MM, van Hasselt PM, Visser G
Mol Genet Metab 2011 May;103(1):96-7. Epub 2011 Jan 27 doi: 10.1016/j.ymgme.2011.01.010. PMID: 21333574
Gobin-Limballe S, McAndrew RP, Djouadi F, Kim JJ, Bastin J
Biochim Biophys Acta 2010 May;1802(5):478-84. Epub 2010 Jan 12 doi: 10.1016/j.bbadis.2010.01.001. PMID: 20060901Free PMC Article

Clinical prediction guides

Diekman EF, Visser G, Schmitz JP, Nievelstein RA, de Sain-van der Velden M, Wardrop M, Van der Pol WL, Houten SM, van Riel NA, Takken T, Jeneson JA
PLoS One 2016;11(2):e0147818. Epub 2016 Feb 16 doi: 10.1371/journal.pone.0147818. PMID: 26881790Free PMC Article
Brown A, Crowe L, Andresen BS, Anderson V, Boneh A
Mol Genet Metab 2014 Dec;113(4):278-82. Epub 2014 Oct 12 doi: 10.1016/j.ymgme.2014.10.005. PMID: 25456746
Zhang RN, Li YF, Qiu WJ, Ye J, Han LS, Zhang HW, Lin N, Gu XF
World J Pediatr 2014 May;10(2):119-25. Epub 2014 May 7 doi: 10.1007/s12519-014-0480-2. PMID: 24801231
Merritt JL 2nd, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A
Mol Genet Metab 2014 Apr;111(4):484-92. Epub 2014 Jan 23 doi: 10.1016/j.ymgme.2014.01.009. PMID: 24503138
Vellekoop P, Diekman EF, van Tuijl I, de Vries MM, van Hasselt PM, Visser G
Mol Genet Metab 2011 May;103(1):96-7. Epub 2011 Jan 27 doi: 10.1016/j.ymgme.2011.01.010. PMID: 21333574

Recent systematic reviews

Lindner M, Hoffmann GF, Matern D
J Inherit Metab Dis 2010 Oct;33(5):521-6. Epub 2010 Apr 7 doi: 10.1007/s10545-010-9076-8. PMID: 20373143
Arnold GL, Van Hove J, Freedenberg D, Strauss A, Longo N, Burton B, Garganta C, Ficicioglu C, Cederbaum S, Harding C, Boles RG, Matern D, Chakraborty P, Feigenbaum A
Mol Genet Metab 2009 Mar;96(3):85-90. Epub 2009 Jan 20 doi: 10.1016/j.ymgme.2008.09.008. PMID: 19157942Free PMC Article

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