PMID: 6108749Jan 1, 1980Paper

Prognosis of congenital methylmalonic aciduria. Correlations between tolerance to proteins, response to vitamin B12 and enzymatic defect (author's transl)

Archives françaises de pédiatrie
J M SaudubrayD Gompertz

Abstract

In 14 patients with methylmalonic acidemia we studied the correlations between clinical severity (considered in terms of survival and number of acute episodes), daily tolerance to proteins (amounts of leucine, valine, methionine, threonine compatible with good health and a methylmalonic acid excretion below 4 mmol/24h), the in vivo response to vitamin B12 and the nature of the enzymatic defect. This study showed that 2 groups of patients with congenital methylmalonic acidemia may be delineated with respect to prognosis. In patients with complete methylmalonyl CoA mutase deficiency, unresponsive to vitamin B12 in vitro and in vivo, the disease begins most often in the neonatal period and evolution is severe, with frequent acute episodes. Their tolerance to precursor aminoacids is similar to the minimal need (10-15 moles i.e. a total proteic intake of 6-9 g/24 h). None of the 8 patients of this group survived for more than 3 years. Conversely, in the second group (patients with normal in vitro MMCoA mutase activity in the presence of vitamin B12 in excess) the disease begins later, evolution is less severe and tolerance to protein intake is normal or subnormal. However, in this group, in vivo response to vitamin B12 is not constant.

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.