Methylmalonic acidaemia with bilateral globus pallidus involvement: A neuropathological study

Journal of Inherited Metabolic Disease

Volumn 21, Issue 6, 1998, Pages 639-644

  Larnaout, A ^a   Mongalgi, M A ^a   Kaabachi, N ^a   Khiari, D ^a   Debbabi, A ^a   Mebazza, A ^a   Ben Hamida, M ^a   Hentati, F ^a  

^a Institut National de Neurologie Tunisia   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYLIC ACID; METHYLMALONIC ACID;

ACIDEMIA; ARTICLE; AUTOPSY; BRAIN NECROSIS; BRAIN SPONGIOSIS; BRAIN STEM; CAPSULA INTERNA; CASE REPORT; CEREBELLUM; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DYSPNEA; EXTRAPYRAMIDAL SYNDROME; GAS CHROMATOGRAPHY; GLOBUS PALLIDUS; HUMAN; KETOACIDOSIS; LETHARGY; MACROPHAGE; MALE; MAMMILLARY BODY; MASS SPECTROMETRY; MUSCLE HYPOTONIA; NEUROPATHOLOGY; PRESCHOOL CHILD; SUBTHALAMIC NUCLEUS; TEGMENTUM; VOMITING;

COBAMIDES; FATAL OUTCOME; GLOBUS PALLIDUS; HUMANS; INFANT; MALE; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE;

EID: 0031751984     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005428432730     Document Type: Article

References (26)

1. Adams RD, Lyon G (1983) The neurology of neonatal metabolic disease. In Adams RD, Lyon G eds. Neurology of Hereditary Metabolic Diseases of Children. New York: McGrawHill, 33.
2. Andreula CF, De Blasi R, Carella A (1991) CT and MR studies of methylmalonic acidemia. Am J Neuroradiol 12: 410-412.
3. Aquilonius SM, Bergstrom K, Enoksson P et al (1980) Cerebral computed tomography in methanol intoxication. J Comput Assist Tomogr 4: 425-428.
4. Baumgartner ER, Viardot C (1995) Long-term follow-up of 77 patients with isolated methylmalonic acidaemia. J Inher Metab Dis 18: 138-142.
5. Brismar J, Oszand PT (1994) CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. Am J Neuroradiol 15: 1459-1473.
6. Dave P, Curless RG, Steinman L (1984) Cerebellar hemorrhage complicating methylmalonic and propionic acidemia. Arch Neurol 41: 1293-1296.
7. de Sousa C, Piesowicz AT, Brett EM, Leonard JV (1989) Focal changes in the globi pallidi associated with neurological dysfunction in methylmalonic acidemia. Neuropediatrics 20: 199-201.
8. Fenton WA, Rosenberg LE (1995) Disorders of propionate and methylmalonate metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1423-1449.
9. Heidenreich R, Natowicz M, Hainline BE, et al (1988) Acute extrapyramidal syndrome in methylmalonic acidemia: 'metabolic stroke' involving the globus pallidus. J Pediatr 113: 1022-1027.
10. Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D (1994) Neurological manifestations of organic acid disorders. Eur J Pediatr 153 (supplement 1): S94-S100.
11. Korf B, Wallmann JK, Levy HL (1986) Bilateral latency of the globus pallidus complicating methylmalonic acidemia. Ann Neurol 20: 364-366.
12. Larnaout A, Hentati F, Belal S, Ben Hamida C, Kaabachi N, Ben Hamida M (1994) Clinical and pathological study of three Tunisian siblings with 1,2-hydroxyglutaric aciduria. Acta Neuropathol 88: 367-370.
13. Oberholzer VG, Levin B, Burgess EA, Young WF (1967) Methylmalonic aciduria: An inborn error of metabolism leading to chronic metabolic acidosis. Arch Dis Childh 42: 492-494.
14. Ostergaard JR, Reske-Nielsen E, Nathan E, Rassmussen K (1991) Incomplete development of the brain in a newborn with methylmalonic acidemia. Clin Neuropathol 10: 85-90.
15. Roodhouft AM Baumgartner ER, Blom WE, Van Acker KJ (1990) Symmetrical necrosis of the basal ganglia in methylmalonic acidemia. Eur J Pediatr 149: 582-584.
16. Rosenberg LE (1983) Disorders of propionate and methylmalonate metabolism. In Stanbury JB, Wyngaarden JB, Frederickson DS, et al, eds. The Metabolic Basis of Inherited Diseases, 5th Edn. New York: McGraw-Hill, 474.
17. Rosenberg NL (1987) Methylmalonic acid, methanol, metabolic acidosis, and lesions of the basal ganglian (letter). Ann Neurol 22(1): 96.
18. Rousson R, Guibaud P (1984) Long-term outcome of organic acidurias: survey of 105 French cases (1967-1983). J Inher Metab Dis 7 (supplement 1): 10.
19. Rubin MA, Wannmacker CN, Valente GB, Camargo MM, Pureur RP (1992) Diminished concentration of the NF-H subunit of neurofilaments in cerebral cortex of rats chronically treated with proline, methylmalonate and phenylalanine plus alpha-methylphenylalanine. J Inher Metab Dis 15: 252-260.
20. Shimoizumi H, Okabe I, Kodama H, Yanagisawa M (1993) Methylmalonic acidemia with bilateral high intensities of the globus pallidus. No to Hattassu 25(6): 554-557.
21. Shuman RM, Leech RV, Scott CR (1978) The neuropathology of the nonketotic and ketotic hyperglycinemias : three cases. Neurology 28: 139-146.
22. Stokke O, Eldjarn L, Norum RR, Steen-Johnson J, Halvorsen S (1967) Methylmalonic acidurias : A new inborn error of metabolism which may cause fatal acidosis in the neonatal period. Scand J Clin Lab Invest 20: 313-328.
23. Sum JM, Twiss JL, Horoupian DS (1993) Selective death of immature neurons in methylmalonic acidemia of the neonate: a case report. Acta Neuropathol 85: 217-221.
24. Strôckler S, Slavc I, Ebner F, Baumgartner R (1992) Asymptomatic lesions of the basal ganglia in a patient with methylmalonic acidemia (letter). Eur J Pediatr 151(12): 920.
25. Thompson GN, Christodoulou J, Danks DM (1989) Metabolic stroke in methylmalonic acidemia (letter). J Pediatr 115: 499-500.
26. Van der Meer SB, Poggi F, Spada M, et al (1994) Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. J Pediatr 125: 903-908.