Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: 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.
I believe we can prevent brain injury in the majority of children who have glutaric aciduria
Their son, Anas, died three years ago at the age of ten from glutaric aciduria
, the same genetic disorder which afflicts Noor.
Use of proper standards enabled us to identify this signal as 3-HG, an important metabolite accumulating in glutaric aciduria
type I and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (11).
See: Glutaric Aciduria
, Type I; Metabolic Disorders
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.
type 1 and neonatal screening: time to proceed with caution.
Harry Vyse aged 12 from Staffordshire has Glutaric Aciduria
Type 1, a progressive genetic disorder.
Benefit for patients with disorders on the new expanded list has been demonstrated clearly for MCAD deficiency and glutaric aciduria
type 1, and for all disorders taken together, and we have assessed this when patients and controls have been 6 years old.
Most infants whose treatment began before the onset of symptoms have developed normally (11), even those with a prenatal diagnosis of glutaric aciduria
type I after the discovery of previous cases in the same family (12).
org 1,2,3,4,8; Spanish materials GLUCOSYL CEREBROSIDE LIPIDOSIS See: Gaucher Disease GLUTARIC ACIDURIA
, TYPE I See also: Acidemia, Organic; Lactic Acidosis International Organization for Glutaric Aciduria
, Type I c/o Mike Metil and Cay Welch RD 3, Box 167A Jersey Shore, PA 17740 (717) 321-6487 1,2,3,4,6,8 GLUTARICACIDURIA I See: Glutaric Aciduria
, Type I GLUTARICACIDURIA II See: Acidemia, Organic; Lactic Acidosis GLUTEN INTOLERANCE See also: Celiac Disease; Celiac Sprue Gluten Intolerance Group of North America PO Box 23053 Seattle, WA 98102-0353 (206) 325-6980 (206) 320-1172 (fax) ?