12] metabolism, such as mutations in methionine synthase reductase [5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR, also known as CblE)] and the CblD-variant-1 defect of the methylmalonic aciduria
(cobalamin deficiency) cblD type, with homocystinuria (MMADHC) gene.
The disorders being screened include thalassemia, sickle cell anemia, homocystinuria, phenylketonuria, glutaric aciduria and methylmalonic aciduria
Their work led to the discovery of a new gene, ABCD4, associated with the transport of B12 and responsible for a new disease called cblJ combined homocystinuria and methylmalonic aciduria
Organic acid testing revealed a massive excretion of methylmalonic acid, indicating that the child had methylmalonic aciduria
, a severe genetic disorder.
Vitamin B-12: low milk concentrations are related to low serum concentrations in vegetarian women and to methylmalonic aciduria
in their infants.
Classical' Organic Acidurias, Propionic Aciduria, Methylmalonic Aciduria
and Isovaleric Aciduria: Long-Term Outcome and Effects of Expanded Newborn Screening Using Tandem Mass Spectrometry, 29 J.
A syndrome of methylmalonic aciduria
, homocysteine, megaloblastic anemia and neurologic abnormalities in a vitamin B12 deficient breast-fed infant of a strict vegetarian.
The advisory board for NBS on metabolic disorders has recently advised the inclusion of propionic and methylmalonic aciduria
into the screening program.
Classical" Organic Acidurias, Propionic Aciduria, Methylmalonic Aciduria
and Isovaleric Aciduria: Long-term Outcome and Effects of Expanded Newborn Screening Using Tandem Mass Spectrometry.
There maybe coexisting methylmalonic aciduria
in patients with combined intracellular methylcobalamin and adenosylcobalamin defects.
The research, which began more than 20 years ago, will allow doctors to perform earlier diagnosis, assess 'carriers' of the disease-Combined Methylmalonic aciduria
(MMA) and Homocystinuria-and open the door to new and improved treatments for this debilitating disease.
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria
and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.