The management and outcome of propionic and methylmalonic acidaemia
- PMID: 7494401
- DOI: 10.1007/BF00710054
The management and outcome of propionic and methylmalonic acidaemia
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.
Similar articles
-
Stable isotope studies in propionic and methylmalonic acidaemia.Eur J Pediatr. 1997 Aug;156 Suppl 1:S67-9. doi: 10.1007/pl00014275. Eur J Pediatr. 1997. PMID: 9266219 Review.
-
Possible explanation for hyperglycinaemia in propionic acidaemia and methylmalonic acidaemia: propionate and methylmalonate inhibit liver and brain mitochondrial clycine transport.J Inherit Metab Dis. 1980;2(4):93-9. doi: 10.1007/BF01805665. J Inherit Metab Dis. 1980. PMID: 6796767
-
Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism.Lancet. 1986 Feb 8;1(8476):289-91. doi: 10.1016/s0140-6736(86)90826-3. Lancet. 1986. PMID: 2868163 Clinical Trial.
-
Nutrition therapy of organic acidaemias with amino acid-based formulas: emphasis on methylmalonic and propionic acidaemia.J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):281-7. doi: 10.1007/s10545-006-0267-2. J Inherit Metab Dis. 2006. PMID: 16763889 Review.
-
Energy expenditure in patients with propionic and methylmalonic acidaemias.J Inherit Metab Dis. 2004;27(1):111-2. doi: 10.1023/b:boli.0000016678.78134.7d. J Inherit Metab Dis. 2004. PMID: 15065575
Cited by
-
Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.Metab Brain Dis. 2022 Jun;37(5):1317-1335. doi: 10.1007/s11011-022-00954-1. Epub 2022 Mar 29. Metab Brain Dis. 2022. PMID: 35348993 Review.
-
Long-term clinical outcomes and health-related quality of life in patients with isolated methylmalonic acidemia after liver transplantation: experience from the largest cohort study in China.World J Pediatr. 2024 Aug;20(8):809-821. doi: 10.1007/s12519-023-00780-0. Epub 2024 Jan 8. World J Pediatr. 2024. PMID: 38190010 Free PMC article.
-
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.J Inherit Metab Dis. 2008 Feb;31(1):55-66. doi: 10.1007/s10545-007-0667-y. Epub 2007 Oct 22. J Inherit Metab Dis. 2008. PMID: 17957493
-
Direct anabolic metabolism of three-carbon propionate to a six-carbon metabolite occurs in vivo across tissues and species.J Lipid Res. 2022 Jun;63(6):100224. doi: 10.1016/j.jlr.2022.100224. Epub 2022 May 11. J Lipid Res. 2022. PMID: 35568254 Free PMC article.
-
Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.Am J Hum Genet. 2007 Dec;81(6):1262-70. doi: 10.1086/522376. Am J Hum Genet. 2007. PMID: 17966092 Free PMC article.
References
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical