We describe two children in a family with
glutaric aciduria type 1 and their different long term outcomes.
Glutaric aciduria type 1 is the most common OA in South Africa and is caused by AR deficiency of glutaryl-CoA dehydrogenase (GCDH), a critical enzyme in the infantile neuronal lysine catabolic pathway.
Macrocephaly, dystonia, and bilateral temporal arachnoid cysts:
glutaric aciduria type 1. Childs Nerv Sys.
The organic acid disorders tested in newborn screening include methylmalonic acidemia (MMA), propionic acidemia (PA), isovaleric acidemia (IVA), 3-methylcrotonyl-coenzyme A carboxylase (3-MCC) deficiency, multiple carboxylase deficiency (MCD),
glutaric aciduria type 1 and 2 (GA-1 and GA-2), beta-ketothiolase (BKT) deficiency, and 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency (HMG-CoA).
Neonatal screening for
glutaric aciduria type 1: Strategies to procede.
Any attempt to completely eliminate the possibility of missing a true case of
glutaric aciduria type 1 may come at the cost of establishing a cutoff so close to the mean as to result in an unacceptably high number of alerts.
[3] Nonstandard abbreviations: NBS, newbornscreening; DBS, dried blood spots; PKU, phenylketonuria; MCADD, medium chain acyl-CoA dehydrogenase deficiency; CHT, congenital hypothyroidism; CF, cystic fibrosis; MSUD, maple syrup urine disease; IVA, isovaleric acidemia; GA1,
glutaric aciduria type 1; HCU, homocystinuria; TSH, thyroid-stimulating hormone; IRT, immunoreactivetrypsinogen.
These conditions are homocystinuria (HCU), maple syrup urine disease (MSUD),
glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).