Facial anomalies in combined methylmalonic aciduria and homocystinuria
β Scribed by Cerone, Roberto ;Schiaffino, Maria Christina ;Caruso, Ubaldo ;Gatti, Rosanna
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 39 KB
- Volume
- 95
- Category
- Article
- ISSN
- 0148-7299
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Prenatal diagnosis for combined methylmalonic aciduria and homocystinuria was performed in five at-risk pregnancies by determination of methylmalonic acid (MMA) and total homocysteine (Hcy) in amniotic fluid supernatant. The incorporation rate of [ 14 C] propionate ( OHCbl) and the synthesis of coba
D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. The biochemical defect is still unknown, and genetic heterogeneity has been suggested. Here, we report on facial anomalies in two unrelated cases of D-2-hydroxyglutaric aciduria presenting
Methylmalonic aciduria (MMA) is an autosomal recessive inborn error of metabolism that results from functional defects in methylmalonyl CoA mutase (MCM), a nuclear-encoded, mitochondrial enzyme that uses the vitamin B 12 derivative, adenosylcobalamin (AdoCbl) as a cofactor. To date, 23 mutations hav