(L2HGA) L-2-Hydroxy-glutaricaciduria

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(L2HGA)

L-2-Hydroxy-glutaricaciduria


	(MHBD) 2-Methyl-3-Hydroxybutyrl CoA Dehydrogenase deficiency
	(2MBCD) 2-Methylbutyryl-CoA Dehydrogenase Deficiency
	(HMG) 3-hydroxy-3 -methylglutaryl-CoA lyase deficiency
	(3-MCC) 3-methylcrotonyl- CoA carboxylase deficiency
	(MGA) 3-Methylglutaconic acidemia or 3-Methylglutaconyl-CoA Hydratase Deficiency
	5-oxoprolinemia
	(D2-HGA) D-2 Hydroxyglutaric Aciduria
	(GA-I) Glutaryl CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I
	(ICBD) Isobutyryl-CoA Dehydrogenase Deficiency 3-Hydroxyisobutyric aciduria
	(IVA) Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia
	(L2HGA) L-2-Hydroxy- glutaricaciduria
	(MA) Malonyl-CoA Decarboxylase Deficiency aka Malonic Acidemia
	(MMA) Methlymalonic Acidemia
	(BKT) Mitochondrial Acetoacetyl CoA Thiolase- (3-Ketothiolase)
	(MCD, holocarboxylase synthetase) Multiple carboxylase deficiency
	(PA) Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia
	(HIBCH) 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency

L-2-Hydroxy-glutaricaciduria (L2HGA)

This autosomal-recessive inherited defect is characterized by excessive excretion of L-2-hydroxyglutaric acid in the urine. The precise molecular basis not well established. Clinical features: Presence of cognitive delay and epileptic seizures, Progressive ataxia, dysarthria, and extrapyramidal dysfunction. Added features of short stature and macrocrania Laboratory findings. Elevated 2-hydroxyglutaric acid in plasma, urine, and CSF. Elevated lysine in plasma and CSF.

Meet our children with L2HGA


Meredith Tyson