The role of methionine in ethylmalonic encephalopathy with petechiae

Archives of Neurology

Volumn 61, Issue 4, 2004, Pages 570-574

  McGowan, Karen A ^a,b   Nyhan, William L ^a,b   Barshop, Bruce A ^a,b   Naviaux, Robert K ^c   Yu, Alice ^a,b   Haas, Richard H ^a,d   Townsend, Jeannette J ^e  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ETHYLMALONIC ACID; ISOLEUCINE; MALONIC ACID; METHIONINE; UNCLASSIFIED DRUG; AMINO ACID; MALONIC ACID DERIVATIVE;

ACROCYANOSIS; ARTICLE; BRAIN DISEASE; CASE REPORT; CHILDHOOD MORTALITY; DEVELOPMENTAL DISORDER; DIETARY INTAKE; ETHYLMALONIC ACIDURIA; ETHYLMALONIC ENCEPHALOPATHY; FEMALE; HUMAN; INFANT; METABOLIC DISORDER; PETECHIA; PRIORITY JOURNAL; BLOOD; BRAIN; CAUDATE NUCLEUS; COMPARATIVE STUDY; FATALITY; FOLLOW UP; GENETICS; MALE; METABOLIC ENCEPHALOPATHY; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHYSIOLOGY; PURPURA; SUBSTANTIA NIGRA; SYNDROME; URINE;

AMINO ACIDS; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CAUDATE NUCLEUS; FATAL OUTCOME; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; ISOLEUCINE; MALE; MALONATES; METHIONINE; PEDIGREE; PURPURA; SUBSTANTIA NIGRA; SYNDROME;

EID: 2342635158     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.61.4.570     Document Type: Article

References (17)

1. Burlina AB, Zachella F, Dionisi-Vici C, et al. New clinical phenotype of branched-chain acyl-CoA defect. Lancet. 1991;338:1522-1523.
2. Burlina AB, Dionisi-Vici C, Bennett MJ, et al. A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr. 1994;124:79-86.
3. Ozand PT, Rashed M, Millington DS, et al. Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. Brain Dev. 1994;16:12-22.
4. Nyhan WL, Ozand PT. Ethylmalonic aciduria. In: Atlas of Metabolic Diseases. London, England: Chapman & Hall (Arnold); 1998:646-650.
5. Nyhan WL. Ethylmalonic aciduria. In: Abnormalities in Amino Acid Metabolism in Clinical Medicine. Norwalk, Conn: Appleton-Century-Crofts; 1984:118-126.
6. Tanaka K, Mantago S, Genel M, Seashore MR, Billings BA, Baretz BH. New defect in fatty-acid metabolism with hypoglycaemia and organic aciduria. Lancet. 1977;2:986-987.
7. Bennett MJ, Gray RGF, Isherwood DM, Murphy N, Pollitt RJ. The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect. J Inher Metab Dis. 1985;8:135-136.
8. Hoffmann G, Aramaki S, Blum-Hoffmann E, Nyhan WL, Sweetman L. Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis. Clin Chem. 1989;35:587-595.
9. Malgorzata JM, Nowaczyk JM, Lehotay DC, et al. Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. Metabolism. 1998;47:836-839.
10. Duran M, Dorland L, van den Berg IET, et al. The ethylmalonic acid syndrome is associated with deranged sulfur amino acid metabolism leading to urinary excretion of thiosulfate and sulfothiocysteine. In: Program and abstracts of the VIIth International Congress of Inborn Errors of Metabolism; May 21-25, 1997; Vienna, Austria, Abstract 048.
11. Nowaczyk MJM, Blaser SI, Clarke JTR. Central nervous system malformations in ethylmalonic encephalopathy. Am J Med Genet. 1998;75:292-298.
12. Hoffmann GF, Hunneman DH, Jakobs C, et al. Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia. J Inher Metab Dis. 1990;13:337-340.
13. Lehnert W, Ruitenbeek W. Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency. J Inher Metab Dis. 1993;16:557-559.
14. Garavaglia B, Colamaria V, Carrara F, et al. Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype. J Inherit Metab Dis. 1994;17:301-303.
15. Garcia-Silva MT, Ribes A, Campos Y, et al. Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. Pediatr Neurol. 1997;17:165-170.
16. Garcia-Silva MT, Colamaria V, Carrara F, et al. Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency. J Pediatr. 1994;125:843.
17. Christensen E, Brandt NJ, Schmalbruch H, Kamieniecka Z, Hertz B, Ruitenbeek W. Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 1993;16:553-556.