The management and outcome of propionic and methylmalonic acidaemia
- 1 July 1995
- journal article
- review article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 18 (4), 430-434
- https://doi.org/10.1007/bf00710054
Abstract
The management of the severe variants of methylmalonic and propionic acidaemia remains difficult. With conventional therapy of diet, carnitine and antibiotics, mortality is high and long-term complications are common. Liver transplantation appears to be an important alternative.Keywords
This publication has 25 references indexed in Scilit:
- Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemiaThe Journal of Pediatrics, 1994
- Acrodermatitis enteropathica–like cutaneous lesions in organic aciduriaThe Journal of Pediatrics, 1994
- Pancreatitis in patients with organic acidemiasThe Journal of Pediatrics, 1994
- Cardiomyopathy in propionic acidaemiaEuropean Journal of Pediatrics, 1994
- Cardiomyopathy in propionic acidaemiaEuropean Journal of Pediatrics, 1993
- Correction of methylmalonyl-CoA mutase deficiency inMut o fibroblasts and constitution of gene expression in primary human hepatocytes by retroviral-mediated gene transferSomatic Cell and Molecular Genetics, 1992
- Neurologic outcome of propionic acidemiaPediatric Neurology, 1992
- Renal tubular dysfunction in methylmalonic acidaemiaEuropean Journal of Pediatrics, 1991
- The use of metronidazole in management of methylmalonic and propionic acidaemiasEuropean Journal of Pediatrics, 1990
- Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the globus pallidusThe Journal of Pediatrics, 1988