PubMed · 6627324
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J Hyánek, M Zapadlo, J Zeman, H Houstková, A Rubín, M Duran, S K Wadman, J Pĕtová, M Pisacka, V Kozich. 1983-09-02. [Isovaleric aciduria].. https://pubmed.ncbi.nlm.nih.gov/6627324/
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Treatment of highly increased plasma concentrations of homocysteine in patients with rare inborn errors of metabolism reduces their risk of vascular thromboses. Many, but not all, epidemiological studies show a relation between slightly increased plasma homocysteine and ischaemic cardiovascular disease. Folic acid supplements reduce plasma homocysteine. The results of ongoing studies of the effect of folic acid and other vitamins on the incidence of cardiovascular disease are expected within the next five years. The available data support the measurement of plasma homocysteine as a part of screening of patients with early and/or frequent vascular thromboses and a disparity between established risk factors and symptoms. Plasma homocysteine > 30 mumol/l in such patients should prompt a search for an inborn error of metabolism.
Propionyl CoA carboxylase (PCC) is a mitochondrial, biotin-dependent enzyme involved in the catabolism of amino acids, odd-chained fatty acids and other metabolites. PCC is composed of two equal subunits, alpha and beta, which are encoded by two separate genes at two distinct human loci. Mutations of either gene in humans results in propionic acidemia (PA). To identify the mouse cDNA for the propionyl CoA carboxylase beta-subunit (pccb), we have screened the mouse EST database using the human sequence. The murine mRNA transcript is approximately 2.3 kb, nearly 500 bps larger than the human approximately 1.8 kb transcript. A PAC genomic DNA clone from the mouse was also isolated and used to generate probes and PCR primers for mapping the pccb locus in the mouse. Both the C57Bl/6JEi and Spret/Ei alleles for regions flanking the pccb gene were sequenced to identify RFLPs. The Jackson Laboratory BSS and BSB backcross panel DNAs were then analyzed using a DdeI polymorphism placing the pccb locus on mouse chromosome 9. Northern blots of adult tissue show that the pccb gene is broadly expressed in the mouse. The approximately 2.3 kb transcript is most abundantly expressed in the kidney, liver, small intestine and stomach tissues.
Three novel mutations (IVS8+3a --> g, N219Y, and E414X) were identified in 6 unrelated patients with mut(0) methylmalonic aciduria. The presence of a wild-type along with rearranged fragments in homozygotes for the IVS8+3a --> g mutation may contribute to their later age of onset (3-11 months of age). Nonetheless, delayed onset was not associated with better neurological outcome and prolonged survival. The large number of undiagnosed dead sibs in most families suggests that the disease is largely underdiagnosed in this region.