Disorders of propionate and methylmalonate metabolism

RA Chalmers, AM Lawson, RA Chalmers… - Organic Acids in Man …, 1982 - Springer
The final unique stage in the metabolism of L-isoleucine involves the cleavage of 2-
methylacetoacetyl-CoA to acetyl-CoA and propionyl-CoA (Section 10.4). The propionyl-CoA …

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene …

CM Dobson, T Wai, D Leclerc… - Proceedings of the …, 2002 - National Acad Sciences
Vitamin B12 (cobalamin) is an essential cofactor of two enzymes, methionine synthase and
methylmalonyl-CoA mutase. The conversion of the vitamin to its coenzymes requires a …

Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy

DT Whelan, E Ryan, M Spate, M Morris… - Canadian Medical …, 1979 - ncbi.nlm.nih.gov
Two infants with lethargy, vomiting, convulsions, coma and marked metabolic acidosis were
found to have very high concentrations of methylmalonic acid in their serum and urine. In …

Preparation for use of aspartate and vitamin B12 or biotin for regulating ketone bodies

RJJ Hageman - US Patent 9,539,278, 2017 - Google Patents
It has been found that high amounts of aspartate equivalents in combination with vitamin
B12 and/or biotin, especially in relative absence of glutamate equivalents, improve the …

Association between vitamin B12 intake and EURRECA's prioritized biomarkers of vitamin B12 in young populations: a systematic review

I Iglesia, RAM Dhonukshe-Rutten, S Bel-Serrat… - Public health …, 2013 - cambridge.org
ObjectiveTo review evidence on the associations between vitamin B12 intake and its
biomarkers, vitamin B12 intake and its functional health outcomes, and vitamin B12 …

[PDF][PDF] Oral cobalamin therapy

RA Chalmers, MD Bain - The Lancet, 2000 - thelancet.com
Sir—In a commentary, B Å Bengtsson (Oct 23), 1 discusses the effects of growth-hormone
therapy in critically ill patients. Growth hormone is an anabolic hormone that spares protein …

Methylmalonic acidemia?

MJ Berg - 2023 - AAN Enterprises
I read with interest the case presented by Ntranos et al. of acute-onset bilateral lesions in the
globus pallidi, hearing loss (possible cochlear dysfunction), and upper thoracic anterior …

ПРЕПАРАТ ДЛЯ ПРИМЕНЕНИЯ АСПАРТАТА И ВИТАМИНА В12 ИЛИ БИОТИНА ДЛЯ РЕГУЛЯЦИИ КЕТОНОВЫХ ТЕЛ

РЙЙ ХАГЕМАН - 2017 - elibrary.ru
Группа изобретений относится к медицине и диетическому питанию. Предложены
композиции (варианты) для энтерального применения для лечения и/или …

[CITATION][C] In vivo andin vitro responsiveness to vitamin B12 in a case of methylmalonic aciduria

A Green, JA Black, AJ Francis, RGF Gray - Journal of Inherited Metabolic …, 1982 - Springer
RESULTS The patient's cells showed 26~ residual activity compared to control lines. This is
in the upper range of previously reported activities for patients with this disorder (Morrow et …