The management and outcome of propionic and methylmalonic acidaemia

Journal of Inherited Metabolic Disease

Volumn 18, Issue 4, 1995, Pages 430-434

  Leonard, J V ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; CARNITINE; GROWTH HORMONE;

CARDIOMYOPATHY; CHRONIC KIDNEY DISEASE; CONFERENCE PAPER; DIET THERAPY; GENE THERAPY; LIVER TRANSPLANTATION; METHYLMALONIC ACIDEMIA; MORTALITY; NEUROLOGIC DISEASE; PANCREATITIS; PROPIONIC ACIDEMIA;

HUMAN; LIPID METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; PROPIONIC ACIDS; TREATMENT OUTCOME;

EID: 0029081213     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/BF00710054     Document Type: Article

References (29)

1. Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism
2. Cardiomyopathy in propionic acidaemia
3. Renal tubular function in methylmalonic acidaemia
4. Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria
5. Acute extrapyramidal syndrome in methylmalonic acidaemia: ‘Metabolic stroke’ involving the globus pallidus
6. Pancreatitis in patients with organic acidaemias
7. Isolation of cDNA clones coding for the α and β chains of human propionyl CoA carboxylase: chromosomal assignment and DNA polymorphism associated with PCCA and PCCB genes
8. Correction of the metabolic defect in propionic acidaemia fibroblasts by microinjection of a full length cDNA or RNA transcript encoding the propionyl CoA carboxylase beta subunit
9. The investigation of inborn errors in vivo using stable isotopes
10. Cardiomyopathy in propionic acidaemia
11. Structure of the human methylmalonyl-CoA mutase (MUT) locus
12. A case of fulminant ecthyma gangrenosum associated with Pseudomonas aeruginosa infection in a patient with methylmalonic acidaemia
13. Carnitine enhances excretion of propionyl-CoA as propionylcarnitine in propionic acidemia
14. Correction of methylmalonyl-CoA mutase deficiency in mut0 fibroblasts and constitution of gene expression in primary human hepatocytes by retroviral-mediated gene transfer
15. Contribution of odd-chain fatty acid oxidation to propionate production in disorders of propionate metabolism
16. The use of neomycin in the treatment of methylmalonic acidemia
17. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency
18. Neurological outcome of propionic acidaemia
19. The use of metronidazole in the management of methylmalonic and propionic acidaemias
20. Sources of propionate production in inborn errors of propionate metabolism
21. Clinical outcome of long term management of patients with vitamin B12 unresponsive methylmalonic acidaemia
22. Chronic renal failure in methylmalonic acidaemia
23. The contribution of amino acid catabolism to propionate production in methylmalonic acidaemia
24. Accumulation of odd chain fatty acids in fetuses and neonates with inherited disorders of propionate metabolism