type 1 as a cause of dystonic cerebral palsy.
3] Nonstandard abbreviations: MADD, multiple acyl-CoA dehydrogenase deficiency; ETF, electron transfer flavoprotein; ETF:QO, ETF dehydrogenase; GA II, glutaric aciduria
type II; GAI, glutaric aciduria
type I; D-2-HGDH, D-2-hydroxyglutaric acid dehydrogenase; C4, butyrylcarnitine; C5, 2-methylbutyrylcarnitine; C5-DC, glutarylcarnitine; C6, hexanoylcarnitine; C8, octanoylcarnitine; C12, dodecanoylcarnitine; C14, myristoylcarnitine; C16, palmitoylcarnitine.
The rest of cases belonged to the third category with involvement of both gray and white matter as in one case of Canavan's and one case of Alexander's disease, two cases of Gangliosidoses, one case of Glutaric aciduria
and thirteen cases of Leigh's disease.
type 1 in South Africa--high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.
Diagnosis and management of glutaric aciduria
type I-revised recommendations.
We describe two children in a family with glutaric aciduria
type 1 and their different long term outcomes.
Galactosaemia and glutaric aciduria
are two of the most common inherited metabolic diseases in South Africa, affecting 1/14 000 live births each.
7) Bilateral sylvian fissure arachnoid cysts should raise clinical suspicion for glutaric aciduria
type 1, while posterior fossa arachnoid cysts are associated with Down syndrome.
The disorders being screened include thalassemia, sickle cell anemia, homocystinuria, phenylketonuria, glutaric aciduria
and methylmalonic aciduria.
TMS tests: Phenylketonuria, Isovaleric Acidemia, Type 1 Glutaric Aciduria
, Medium Chain Acyl CoA Dehydrogenase (MCAD) deficiency, HMG CoA lyase deficiency.
Examples of metabolic disorders that may be misdiagnosed as child abuse Osteogenesis imperfecta (10) Ehlers-Danlos syndrome type IV (11) Menkes disease (12) Glutaric aciduria
I (13) Secondary hyperparathyroidism (14) X-linked hypophosphataemia (13) Epidermolysis bullosa (15) Methylmalonic academia (13) Fatty acid oxidation disorders (12)
An adult with a movement disorder and bilateral temporal arachnoid cysts by brain imaging was found to have very elevated glutaric acid, indicating the presence of the genetic disease glutaric aciduria