Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12613
Abstract: Propionic (PA) and methylmalonic aciduria (MMA) share many clinical similarities, which include the risk of acute metabolic encephalopathies, and some long‐term complications, such as optic neuropathy, pancreatic involvement, developmental disability, and similar management approaches, but… read more here.
Keywords: long term; team; propionic methylmalonic; transplantation ... See more keywords
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause
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DOI: 10.1038/s41436-019-0640-9
Abstract: Purpose Our laboratory has classified patients with methylmalonic aciduria using somatic cell studies for over four decades. We have accumulated 127 fibroblast lines from patients with persistent elevated methylmalonic acid (MMA) levels in which no… read more here.
Keywords: genome rna; cause; methylmalonic aciduria; rna ... See more keywords
Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report
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DOI: 10.1186/s12887-020-02130-9
Abstract: Background Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B 12 metabolism with a wide spectrum of clinical manifestations. cblC presenting with pulmonary hypertension (PH) as leading sympotom is rare… read more here.
Keywords: hypertension late; pulmonary hypertension; methylmalonic aciduria; case ... See more keywords
Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
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DOI: 10.3390/medicina57020128
Abstract: Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance. Natural protein is a source of methylmalonic acid precursors, and intake is individually modified according to the severity… read more here.
Keywords: pregnancy; methylmalonic aciduria; long term; treatment ... See more keywords