Pathophysiology, diagnosis, and treatment of methylmalonic aciduria - Recent advances and new challenges

Pediatric Nephrology

Volumn 19, Issue 10, 2004, Pages 1071-1074

  Hörster, Friederike ^a   Hoffmann, Georg F ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

Kidney transplantation; Liver transplantation; Methylmalonic aciduria; Renal failure

Indexed keywords

AMINO ACID; CARBOXYLIC ACID; CARNITINE; GLUCOSE; GLUTARIC ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; INSULIN; INTRALIPID; MALONIC ACID; METRONIDAZOLE;

AMINO ACID METABOLISM; BASAL GANGLION; CATABOLISM; CHRONIC KIDNEY FAILURE; DIAGNOSTIC PROCEDURE; DIET SUPPLEMENTATION; DRUG BLOOD LEVEL; EARLY DIAGNOSIS; EDITORIAL; EMERGENCY TREATMENT; EXTRAPYRAMIDAL SYMPTOM; FOLLOW UP; HEMODIALYSIS; HUMAN; HYPERGLYCEMIA; INBORN ERROR OF METABOLISM; INTRAVENOUS ADMINISTRATION; KIDNEY TRANSPLANTATION; LIVER TRANSPLANTATION; MEDICAL RESEARCH; METHYLMALONIC ACIDEMIA; NEUROLOGIC DISEASE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN DIET; RARE DISEASE; SURVIVAL RATE;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD; HUMANS; KIDNEY FAILURE, CHRONIC; METHYLMALONIC ACID;

EID: 4844223887     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-004-1572-3     Document Type: Editorial

References (25)

1. Paik KH, Lee JE, Jin D-K (2004) Successful dialysis in a boy with methylmalonic acidemia. Pediatr Nephrol (this issue)
2. Schmitt CP, Mehls O, Hörster F, Kölker S (2004) Reversible end stage renal disease in an adolescent patient with methylmalonic aciduria. Pediatr Nephrol (this issue)
3. Fenton WA, Gravel RA, Rosenblatt DS (2001) In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 8th edn. McGraw-Hill, New York, pp 2165-2193
4. Meer SB van der, Poggi F, Spada M, Bonnefont JP, Ogier H, Hubert P, Depondt E, Rapoport D, Rabier D, Charpentier C (1994) Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. J Pediatr 125:903-908
5. Nicolaides P, Leonard JV, Surtees R (1998) The neurological outcome of methylmalonic acidaemia. Arch Dis Child 78:508-512
6. Baumgartner ER, Viardot C and 47 colleagues from 39 hospitals from 7 European countries (1995) Long-term follow-up of 77 patients with isolated methylmalonic aciduria. J Inherit Metab Dis 18:138-142
7. Zschocke J, Hoffmann GF (1999) Vademecum Metabolicum: Manual of Metabolic Paediatrics. Schattauer Verlag, Stuttgart
8. Schulze A, Lindner M, Kohlmueller D, Olgemoeller K, Mayatepek E, Hoffmann GF(2003) Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 111:1399-1406
9. Okun JG, Hörster F, Farkas LM, Feyh P, Hinz A, Sauer S, Hoffmann GF, Unsicker K, Mayatepek E, Kölker S (2002). Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle and synergistically acting excitotoxicity. J Biol Chem 277:14674-14680
10. Kölker S, Schwab M, Hörster F, Sauer S, Hinz A, Wolf NI, Mayatepek E, Hoffmann GF, Smeitink JAM, Okun JG (2003) Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain. J Biol Chem 278:47388-47393
11. Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften: Leitlinien zu Organoacidopathien, AWMF Register 027/007; Stand 11/1997
12. Prietsch V, Lindner M, Zschocke J, Nyhan WL, Hoffmann GF (2002) Emergency management of inherited metabolic diseases. J Inherit Metab Dis 25:531-546
13. Schaefer F, Straube E, Oh J, Mehls O, Mayatepek E (1999) Dialysis in neonates with inborn errors of metabolism. Nephrol Dial Transplant 14:910-918
14. Walter JH, Michalski A, Wilson WM, Leonard JV, Barrat TM, Dillon MJ (1989) Chronic renal failure in methylmalonic acidemia. Eur J Pediatr 148:344-348
15. D'Angio CT, Dillon MJ, Leonard JV (1991) Renal tubular dysfunction in methylmalonic acidaemia. Eur J Pediatr 150: 259-263
16. Molteni KH, Oberley TD, Wolff JA, Friedman AL (1991) Progressive renal insufficiency in methylmalonic acidemia. Pediatr Nephrol 5:323-326
17. Rutledge SL, Geraghty M, Mroczek E, Rosenblatt D, Kohout E (1993) Tubulointerstitial nephritis in methylmalonic acidemia. Pediatr Nephrol 7:81-82
18. Rötig A, Goutieres F, Niaudet P, Rustin P, Chretien D, Guest G, Miko Gubler MC, Munnich A (1995) Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis. J Pediatr 126:567-601
19. Buemi M, Allegra A, Rotig A, Gubler MC, Aloisis C, Corica F, Pettinato G, Frisina N, Niaudet P (1997) Renal failure from mitochondrial cytopathies. Nephron 76:249-253
20. Van't Hoff W, McKiernan, Surtees R, Leonard JV (1999) Liver transplantation for methylmalonic acidemia. Eur J Pediatr [Suppl] 2:S70-S74
21. 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
22. Van Calcar SC, Harding CO, Lyne P, Hogan K, Banerjee, Sollinge Rieselbach RE, Wolff JA (1998) Renal transplantation in a patient with methylmalonic acidemia. J Inherit Metab Dis 21:729-737
23. Lubrano R, Scoppi P, Barsotti P, Travasso E, Scateni S, Cristaldi S, Castello MA (2001) Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure. Pediatr Nephrol 16:848-851
24. Van't Hoff WG, Dixon M, Taylor J, Mistry P, Rolles P, Rees L, Leonard JV (1998) Combined liver-kidney transplantation in methylmalonic acidemia. J Pediatr 1043-1044
25. Burlina A, Walter J (2002) Managements of organic aciduria. Publication of workshop results of the 34th European Metabolic Group Meeting. Milupa, Friedrichsdorf