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Methylmalonic Acidemia and Propionic Acidemia
2005Abstract This chapter discusses methylmalonic acidemia and propionic acidemia, including clinical features, biochemical abnormalities, factors to be considered in nutritional evaluation and treatment, dietary management, other treatments, monitoring, and long-term outcomes.
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Observations on the coexistence of methylmalonic acidemia and glycinemia
The Journal of Pediatrics, 1969Methylmalonic acidemia and ketotic glycinemia are clinically indistinguishable. Both disorders if untreated are characterized by vomiting, lethargy, failure to thrive, hepatomegaly, ketoacidosis, osteoporosis, neutropenia, and thrombocytopenia. Biochemically, however, they are distinct entities.
G, Morrow +5 more
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Recent Advances in the Inherited Methylmalonic Acidemias
Acta Paediatrica, 1987Methylmalonic acidemia results from decreased activity of methylalonyl‐CoA mutase, an enzyme required for the catabolism of four amino acids. A cobalamin (vitamin B12) compound is required as coenzyme. Several inherited mutations of the mutase apoenzyme or of cobalamin coenzyme synthesis have been identified.
M J, Mahoney, D, Bick
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Progressive renal insufficiency in methylmalonic acidemia
Pediatric Nephrology, 1991Methylmalonic acidemia is a heterogeneous inborn error of propionate metabolism. Therapy frequently includes a low-protein diet to minimize precursors of methylmalonic acid (MMA) and reduce its concentration in body tissues. Renal dysfunction in these patients is increasingly recognized.
K H, Molteni +3 more
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The Natural History of the Inherited Methylmalonic Acidemias
New England Journal of Medicine, 1983Six biochemical and genetic forms of methylmalonic acidemia have been defined previously: two (mut degrees and mut-) resulting from defects in the mutase apoenzyme, and four (cbl A, cbl B, cbl C, and cbl D) resulting from deficient adenosylcobalamin synthesis. We retrospectively surveyed the clinical presentation, response to cobalamin supplementation,
S M, Matsui +2 more
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Biomarkers for Drug Development in Propionic and Methylmalonic Acidemias
Journal of Inherited Metabolic Disease, 2022Nicola Longo +2 more
exaly
Nutrition Management of Propionic Acidemia and Methylmalonic Acidemia
2015Infants with propionic acidemia (PROP) or methylmalonic acidemia (MMA) can be identified by newborn screening, although those with severe phenotypes may present with symptoms of metabolic ketoacidosis before screening results are available. Nutrition management of PROP or MMA involves limiting intact protein and providing a medical food free of ...
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