Clinical and radiological features of the late-onset methylmalonic aciduria: A review of three cases

Chinese Journal of Neurology

Volumn 37, Issue 4, 2004, Pages 327-330

  Wang, Zhao Xia ^a   Zhang, Wei ^b   Yang, Yan Ling ^b   Yuan, Yun ^b  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b NONE

Author keywords

Atrophy; Brain; Hyperhomocystinemia; Methylmalonic acid; Vitamin B12

Indexed keywords

CARBOXYLIC ACID; CITRIC ACID; COBALAMIN; CYANOCOBALAMIN; METHYLCITRIC ACID; METHYLMALONIC ACID; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BRAIN ATROPHY; CAPSULA INTERNA; CARNITINE DEFICIENCY; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; DEMENTIA; DYSARTHRIA; ENURESIS; FATIGUE; FEMALE; GAS CHROMATOGRAPHY; GLOBUS PALLIDUS; HUMAN; HYPERHOMOCYSTEINEMIA; LEARNING DISORDER; MALE; MASS SPECTROMETRY; MEGALOBLASTIC ANEMIA; MEMORY DISORDER; METHYLMALONIC ACIDURIA; MOTOR DYSFUNCTION; MUSCLE WEAKNESS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PARESTHESIA; PYRAMIDAL SIGN; RIGIDITY; TENDON REFLEX; TREMOR; URINALYSIS; VISUAL IMPAIRMENT; VITAMIN SUPPLEMENTATION; WHITE MATTER;

EID: 7444265889     PISSN: 10067876     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2001. 2165-2198.
2. 12 utilization. Bioessays, 1990, 12: 331-334.
3. Fowler B. Genetic defects of folate and cobalamin metabolism. Eur J Pediatr, 1998, 157Suppl 2: S60-S66.
4. Rossi A, Cerone R, Biancheri R, et al. Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. AJNR Am J Neuroradiol, 2001, 22: 554-563.
5. Ledley FD, Levy HL, Shih VE, et al. Benign methylmalonic aciduria. N Engl J Med, 1984, 311: 1015-1018.
6. 12 in health and disease: part I - inherited disorders of function, absorption, and transport. Gastroenterologist, 1995, 3: 329-344.
7. Brismar J, Ozand PT. CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. AJNR Am J Neuroradiol, 1994, 15: 1459-1473.
8. Andreula CF, De Blasi R, Carella A. CT and MRI studies of methylmalonic acidemia. AJNR Am J Neuroradiol, 1991, 12: 410-412.
9. Korf B, Wallman JK, Levy HL. Bilateral lucency of the globus pallidus complicating methylmalonic acidemia. Ann Neurol, 1986, 20: 364-366.
10. Nicolaides P, Leonard J, Surtees R. Neurological outcome of methylmalonic acidaemia. Arch Dis Child, 1998, 78: 508-512.
11. Heidenreich R, Natowicz M, Hainline BE, et al. Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus. J Pediatr, 1988, 113: 1022-1027.
12. Deodato F, Rizzo C, Boenzi S, et al. Successful pregnancy in a woman with mut methylmalonic acidaemia. J Inherit Metab Dis, 2002, 25: 133-134.