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2-ethylhydracylic aciduria

MedGen UID:
1780879
•Concept ID:
C5539431
•
Finding
Synonyms: Elevated urinary 2-ethylhydracylic acid; Elevated urinary 2-methylbutyrylglycine
 
HPO: HP:0033220

Definition

An increased concentration of 2-ethylhydracylic acid in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV2-ethylhydracylic aciduria

Conditions with this feature

Deficiency of 2-methylbutyryl-CoA dehydrogenase
MedGen UID:
355324
•Concept ID:
C1864912
•
Disease or Syndrome
2-Methylbutyryl-CoA dehydrogenase deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation. It is most often ascertained via newborn screening and is usually clinically asymptomatic, although some patients have been reported to have delayed development and neurologic signs. Therefore, the clinical relevance of the deficiency is unclear (Sass et al., 2008).
See: Condition Record
Deficiency of 2-methylbutyryl-CoA dehydrogenase

Professional guidelines

PubMed

Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.
Knerr I, Weinhold N, Vockley J, Gibson KM
J Inherit Metab Dis 2012 Jan;35(1):29-40. Epub 2011 Feb 3 doi: 10.1007/s10545-010-9269-1. PMID: 21290185Free PMC Article
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
Alfardan J, Mohsen AW, Copeland S, Ellison J, Keppen-Davis L, Rohrbach M, Powell BR, Gillis J, Matern D, Kant J, Vockley J
Mol Genet Metab 2010 Aug;100(4):333-8. Epub 2010 May 23 doi: 10.1016/j.ymgme.2010.04.014. PMID: 20547083Free PMC Article
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J
Pediatrics 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. PMID: 12837870

Recent clinical studies

Etiology

Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.
Porta F, Chiesa N, Martinelli D, Spada M
J Pediatr Endocrinol Metab 2019 Feb 25;32(2):101-108. doi: 10.1515/jpem-2018-0311. PMID: 30730842
Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.
Knerr I, Weinhold N, Vockley J, Gibson KM
J Inherit Metab Dis 2012 Jan;35(1):29-40. Epub 2011 Feb 3 doi: 10.1007/s10545-010-9269-1. PMID: 21290185Free PMC Article
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
Alfardan J, Mohsen AW, Copeland S, Ellison J, Keppen-Davis L, Rohrbach M, Powell BR, Gillis J, Matern D, Kant J, Vockley J
Mol Genet Metab 2010 Aug;100(4):333-8. Epub 2010 May 23 doi: 10.1016/j.ymgme.2010.04.014. PMID: 20547083Free PMC Article
2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.
van Calcar SC, Gleason LA, Lindh H, Hoffman G, Rhead W, Vockley G, Wolff JA, Durkin MS
WMJ 2007 Feb;106(1):12-5. PMID: 17393751
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J
Pediatrics 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. PMID: 12837870

Diagnosis

Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran.
Moravej H, Inaloo S, Nahid S, Mazloumi S, Nemati H, Moosavian T, Nasiri J, Ghasemi F, Alaei MR, Dalili S, Aminzadeh M, Katibeh P, Amirhakimi A, Yazdani N, Ilkhanipoor H, Afshar Z, Hadipour F, Hadipour Z
Indian Pediatr 2023 Mar 15;60(3):193-196. Epub 2023 Jan 2 PMID: 36604934
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Hobert JA, Liu A, Pasquali M
Curr Protoc Hum Genet 2016 Oct 11;91:17.25.1-17.25.12. doi: 10.1002/cphg.19. PMID: 27727436
UPLC-MS/MS analysis of C5-acylcarnitines in dried blood spots.
Janzen N, Steuerwald U, Sander S, Terhardt M, Peter M, Sander J
Clin Chim Acta 2013 Jun 5;421:41-5. Epub 2013 Mar 13 doi: 10.1016/j.cca.2013.03.001. PMID: 23499962
Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.
Knerr I, Weinhold N, Vockley J, Gibson KM
J Inherit Metab Dis 2012 Jan;35(1):29-40. Epub 2011 Feb 3 doi: 10.1007/s10545-010-9269-1. PMID: 21290185Free PMC Article
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J
Pediatrics 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. PMID: 12837870

Therapy

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
Van Calcar SC, Baker MW, Williams P, Jones SA, Xiong B, Thao MC, Lee S, Yang MK, Rice GM, Rhead W, Vockley J, Hoffman G, Durkin MS
Mol Genet Metab 2013 Sep-Oct;110(1-2):111-5. Epub 2013 Apr 15 doi: 10.1016/j.ymgme.2013.03.021. PMID: 23712021Free PMC Article
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J
Pediatrics 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. PMID: 12837870

Prognosis

Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.
Porta F, Chiesa N, Martinelli D, Spada M
J Pediatr Endocrinol Metab 2019 Feb 25;32(2):101-108. doi: 10.1515/jpem-2018-0311. PMID: 30730842

Clinical prediction guides

Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.
Porta F, Chiesa N, Martinelli D, Spada M
J Pediatr Endocrinol Metab 2019 Feb 25;32(2):101-108. doi: 10.1515/jpem-2018-0311. PMID: 30730842
Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
Ensenauer R, Niederhoff H, Ruiter JP, Wanders RJ, Schwab KO, Brandis M, Lehnert W
Ann Neurol 2002 May;51(5):656-9. doi: 10.1002/ana.10169. PMID: 12112118

Supplemental Content

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