Methylmalonic and propionic acidaemias: Management and outcome

Journal of Inherited Metabolic Disease

Volumn 28, Issue 3, 2005, Pages 415-423

  De Baulny, Helene Ogier ^a   Benoist, J F ^a   Rigal, O ^a   Touati, G ^b   Rabier, D ^b   Saudubray, J M ^b  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; BENZOIC ACID; BIOTIN; CARNITINE; CYANOCOBALAMIN; GLUTAMIC ACID; METHYLMALONIC ACID; METRONIDAZOLE; PROPIONIC ACID;

ALKALINIZATION; ARTICLE; CALORIC INTAKE; CHILD DEVELOPMENT; CLINICAL FEATURE; DEATH; DIET SUPPLEMENTATION; EDUCATION; EXCHANGE BLOOD TRANSFUSION; FOLLOW UP; GROWTH RETARDATION; HEART FAILURE; HEMODIALYSIS; HEMOFILTRATION; HUMAN; HYPERAMMONEMIA; INTELLIGENCE QUOTIENT; KETOACIDOSIS; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; LIVER TRANSPLANTATION; LONG TERM CARE; METHYLMALONIC ACIDEMIA; NEUROLOGIC DISEASE; NEWBORN CARE; NEWBORN PERIOD; NUTRITIONAL STATUS; NUTRITIONAL SUPPORT; PATIENT CARE; PERITONEAL DIALYSIS; PROPIONIC ACIDEMIA; PROTEIN RESTRICTION; QUALITY OF LIFE; REHYDRATION; SURVIVAL RATE; TREATMENT OUTCOME;

CHILD, PRESCHOOL; HUMANS; INFANT; INFANT, NEWBORN; LONG-TERM CARE; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; NUTRITIONAL SUPPORT; PROPIONIC ACIDS; TOXINS, BIOLOGICAL; TREATMENT OUTCOME;

EID: 19444376924     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10545-005-7056-1     Document Type: Article

References (32)

1. 18FDG) PET scan of the brain in propionic acidemia: Clinical and MRI correlations. Brain Dev 21: 312-317.
2. Baumgartner ER, Viardot C (1995) Long-term follow up of 77 patients with isolated methylmalonic acidaemia. J Inherit Metab Dis 18: 138-142.
3. Burlina AP, Manara R, Calderone M, Catuogno S, Burlina AB (2003) Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria. J Inherit Metab Dis 26: 417-422.
4. Chakrapani A, Sivakumar P, McKiernan PJ, Leonard JV (2002) Metabolic stroke in methylmalonic acidemia five years after liver transplantation. J Pediatr 140: 261-263.
5. Gebhardt B, Vlaho S, Fischer D, Sewell A, Böhles H (2003) N-Carbamylglutamate enhances ammonia detoxification in a patient with methylmalonic aciduria. Mol Genet Metab 79: 303-304.
6. Goyens P, Brasseur D, Otte JB, et al (1997) Liver transplantation for methylmalonyl-CoA mutase deficiency. J Inherit Metab Dis 20 (supplement 1): 38.
7. Ianchulev T, Kolin T, Moseley K, Sadun A (2003) Optic nerve atrophy in propionic academia. Ophthalmology 110: 1850-1854.
8. Lehnert W, Sperl W, Suormala T, Baumgartner ER (1994) Propionic acidaemia: Clinical, biochemical and therapeutic aspects. Eur J Pediatr 153 (supplement 1): S68-S80.
9. Leonard JV (1995) The management and outcome of propionic and methylmalonic acidaemia. J Inherit Metab Dis 18: 430-434.
10. Leonard JV, Walter JH, McKiernan PJ (2001) The management of organic acidaemias: The role of transplantation. J Inherit Metab Dis 24: 309-311.
11. Leonard JV, Vijayaraghavan S, Walter JH (2003) The impact of screening for propionic and methylmalonic acidaemia. Eur J Pediatr 162 (supplement 1): S21-S24.
12. Lubrano R, Scoppi P, Barsotti P, et al (2001) Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure. Pediatr Nephrol 16: 848-851.
13. Nicolaides P, Leonard JV, Surtees RAH (1998) Neurological outcome of methylmalonic acidaemia. Arch Dis Child 78: 508-512.
14. Nyhan WL, Bay C, Beyer E, Mazi M (1999) Neurologic nonmetabolic presentation of propionic acidemia. Arch Neurol 56: 1143-1147.
15. Nyhan WL, Gargus JJ, Boyle K, Selby R, Koch R (2002) Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur J Pediatr 161: 377-379.
16. Ogier de Baulny H (2002) Management and emergency treatments of neonates with a suspicion of an inborn error of metabolism. Semin Neonatol 7: 17-26.
17. Picca S, Dionisi-Vici C, Abeni D, et al (2001) Extracorporeal dialysis in neonatal hyperammonemia: Modalities and prognostic indicators. Pediatr Nephrol 16: 862-867.
18. Prietsch V, Lindner M, Zschocke W, Nyhan L, Hoffmann GF (2002) Emergency management of inherited metabolic diseases. J Inherit Metab Dis 25: 531-546.
19. Rajpoot DK, Gargus JJ (2004) Acute hemodialysis for hyperammonia in small neonates. Pediatr Nephrol 19: 390-395.
20. Rela M, Muiesan P, Andreani P, et al (1997) Auxiliary liver transplantation for metabolic disease. Transplant Proc 29: 444-445.
21. Saudubray JM, Touati G, Delonlay P, et al (1999) Liver transplantation in propionic acidaemia. Eur J Pediatr 158 (supplement 2): S65-S69.
22. Saudubray JM, Nassogne MC, de Lonlay P, Touati G (2002) Clinical approach to inherited metabolic disorders in neonates: An overview. Semin Neonatol 7: 3-15.
23. Schlenzig JS, Poggi-Travert F, Laurent J, et al (1995) Liver transplantation in two cases of propionic acidaemia. J Inherit Metab Dis 18: 448-461.
24. - patients with methylmalonylCoA mutase deficiency. Am J Med Genet 45: 619-624.
25. Surtees RAH, Matthews EE, Leonard JV (1992) Neurologic outcome of propionic acidaemia. Pediatr Neurol 8: 333-337.
26. Van Calcar SC, Harding CO, Lyne P, et al (1998) Renal transplantation in a patient with methylmalonic acidaemia. J Inherit Metab Dis 21: 729-737.
27. 12 unresponsive methylmalonic acidaemia. J Pediatr 125: 903-908.
28. Van der Meer SB, Poggi F, Spada M, et al (1996) Clinical outcome and long term management of 17 patients with propionic acidaemia. Eur J Pediatr 155: 205-210.
29. van't Hoff WG, Dixon M, Taylor J, et al (1998) Combined liver-kidney transplantation in methylmalonic acidemia. J Pediatr 132: 1043-1044.
30. van't Hoff W, McKiernan JP, Surtees RAH, Leonard JV (1999) Liver transplantation for methylmalonic acidaemia. Eur J Pediatr 158 (supplement 1): S70-S74.
31. Yorifuji T, Muroi J, Uematsu A, Nakahata T, Egawa H, Tanaka I (2000) Living-related liver transplantation for neonatal-onset propionic academia. J Pediatr 137: 572-574.
32. Yorifuji T, Kawai M, Mamada M, et al (2004) Living-donor liver transplantation for propionic acidaemia. J Inherit Metab Dis 27: 205-210.