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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

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).

Professional guidelines

PubMed

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
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
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

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
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
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
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
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

Hobert JA, Guymon R, Yuzyuk T, Pasquali M
Curr Protoc 2023 Apr;3(4):e758. doi: 10.1002/cpz1.758. PMID: 37099696
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
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
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
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

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
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

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

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
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

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