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Elevated urinary isovalerylglycine level

MedGen UID:
1053962
Concept ID:
CN377434
Finding
HPO: HP:6000602

Definition

The amount of isovalerylglycine in the urine, normalized for urine concentration, is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urinary isovalerylglycine level

Conditions with this feature

Isovaleryl-CoA dehydrogenase deficiency
MedGen UID:
82822
Concept ID:
C0268575
Disease or Syndrome
Isovaleric acidemia (IVA) is an inborn error of leucine metabolism caused by a deficiency of isovaleryl-CoA dehydrogenase. It can present with severe neonatal ketoacidosis leading to death, but in milder cases recurrent episodes of ketoacidosis of varying degree occur later in infancy and childhood (summary by Vockley et al., 1991).

Recent clinical studies

Diagnosis

Yamada K, Kobayashi H, Bo R, Takahashi T, Hasegawa Y, Nakamura M, Ishige N, Yamaguchi S
Mol Genet Metab 2015 Nov;116(3):192-4. Epub 2015 Sep 26 doi: 10.1016/j.ymgme.2015.09.009. PMID: 26428892
Drousiotou A, DiMeo I, Mineri R, Georgiou T, Stylianidou G, Tiranti V
Clin Genet 2011 Apr;79(4):385-90. doi: 10.1111/j.1399-0004.2010.01457.x. PMID: 20528888

Therapy

Yamada K, Kobayashi H, Bo R, Takahashi T, Hasegawa Y, Nakamura M, Ishige N, Yamaguchi S
Mol Genet Metab 2015 Nov;116(3):192-4. Epub 2015 Sep 26 doi: 10.1016/j.ymgme.2015.09.009. PMID: 26428892

Clinical prediction guides

Yamada K, Kobayashi H, Bo R, Takahashi T, Hasegawa Y, Nakamura M, Ishige N, Yamaguchi S
Mol Genet Metab 2015 Nov;116(3):192-4. Epub 2015 Sep 26 doi: 10.1016/j.ymgme.2015.09.009. PMID: 26428892

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