3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen?

3-Methylcrotonyl-CoA carboxylase deficiency

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism that appears to be the most frequent organic aciduria detected in tandem mass spectrometry-based neonatal screening programs. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. MCC is a heteromeric m...

Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency.

Aspergillus nidulans is able to use Leu as the sole carbon source through a metabolic pathway leading to acetyl-CoA and acetoacetate that is homologous to that used by humans. mccA and mccB, the genes encoding the subunits of 3-methylcrotonyl-CoA carboxylase, are clustered with ivdA encoding isovaleryl-CoA dehydrogenase, a third gene of the Leu catabolic pathway, on the left arm of chromosome I...

3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome.

W are describing the long-term follow up of a 6 and half-year old patient from Saudi Arabia with Biotin-Resistant 3-Methylcrotonyl-coenzyme-A carboxylase (MCC) deficiency. She presented with acidosis, lower respiratory tract infection, vomiting, diarrhea and failure to thrive at 3 months of age. The diagnosis initially reached by tandem metabolic stroke (MS) and then confirmed by enzyme analysi...

To screen or not to screen.

All screenings lack efficiency because they rely too often on biaised and underpowered statistics. Healthcare business makes tremendous benefits out of well established and easy profit earning processes from screenings to treatments; therefore patients enlightened consent is under influence. In the wealthiest parts of the world, this field of public health sciences impulses studies with intense...