Neurologic nonmetabolic presentation of propionic acidemia

Archives of Neurology

Volumn 56, Issue 9, 1999, Pages 1143-1147

  Nyhan, William L ^a   Bay, Carolyn ^b   Beyer, ElizaBeth Webb ^c   Mazi, Melissa ^c  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^b CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^c AKRON GENERAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CITRIC ACID; PROPIONIC ACID; PROPIONYL COENZYME A CARBOXYLASE;

ADULT; ARTICLE; AUTOMUTILATION; CASE REPORT; CHOREOATHETOSIS; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME ASSAY; EXTRAPYRAMIDAL SYNDROME; FAILURE TO THRIVE; FIBROBLAST; HUMAN; LYMPHOCYTE; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; QUADRIPLEGIA; SCHOOL CHILD; SEIZURE; URINALYSIS;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; CARBOXY-LYASES; CENTRAL NERVOUS SYSTEM DISEASES; CHILD; DIAGNOSIS, DIFFERENTIAL; FIBROBLASTS; HUMANS; LYMPHOCYTES; MAGNETIC RESONANCE IMAGING; MALE; METHYLMALONYL-COA DECARBOXYLASE; PHENOTYPE; PROPIONIC ACIDS;

EID: 0032888457     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.56.9.1143     Document Type: Article

References (20)

1. Nyhan WL, Ozand PT. Propionic acidemia. Atlas of Metabolic Diseases. London, England: Chapman & Hall; 1998:4-12.
2. Haas RH, Marsden DL, Capistrano-Estrada S, et al. Acute basal ganglia infarction in propionic acidemia. J Child Neurol. 1995;10:18-22.
3. Hamilton RL, Haas RH, Nyhan WL, Powell HC, Grafe MR. Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions. J Child Neurol. 1995;10:25-30.
4. 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.
5. Hoffmann 6, 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;38: 587-595.
6. Weyler W, Sweetman L, Maggio DC, Nyhan WL. Deficiency of propionyl-CoA carboxylase in a patient with methylcrotonylglycinuria. Clin Chim Acta. 1977;76: 321-328.
7. Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964;36:561-570.
8. Harding B, Leonard J, Erdohazi M. Propionic acidemia: a neuropathological study of two patients presenting in infancy. Neuropathol Appl Neurobiol. 1991;17: 133-138.
9. Nyhan WL, Chisolm JJ, Edwards RO. Idiopathic hyperglycinuria, III: report of a second case. J Pediatr. 1963;62:540-545.
10. Wadlington WB, Kilroy A, Ando T, et al. Hyperglycinemia and propionyl CoA carboxylase deficiency and episodic severe illness without consistent ketosis. J Pediatr. 86:707-712.
11. Coude FX, Sweetman L, Nyhan WL. Inhibition by propionyl CoA of N-acetyl-glutamate synthetase in rat liver mitochondrial. J Clin Invest. 1979;64:1544-1551.
12. Cathlineau L, Briad P, Ogier H, et al. Occurrence of hyperammonemia in the course of 17 cases of methylmalonic acidemia. J Pediatr. 1978;99:279-280.
13. Kidd JR, Wolf B, Hsia YE, Kidd KK. Genetics of propionic acidemia in a Mennonite-Amish kindred. Am J Hum Genet. 1980;32:236-245.
14. Gravel RA, Lam K-F, Scully KJ, Hsia YE. Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts. Am J Hum Genet. 1977; 29:378-388.
15. Tahara T, Kraus JP, Rosenberg LE. An unusual insertion/deletion in the gene encoding the β-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia. Genetics. 1990;87:1372-1376.
16. Surtees RA, Matthews EE, Leonard JV. Neurologic outcome of propionic acidemia. Pediatr Neurol. 1992;8:333-337.
17. Ozand PT, Rashed M, Gascon GG, et al. Unusual presentations of propionic acidemia. Brain Dev. 1994;16(suppl):46-57.
18. Sethi KD, Ray R, Roesel RA, et al. Adult-onset chorea and dementia with propionic acidemia. Neurology. 1992;39:1343-1345.
19. Marsden D, Sege-Petersen K, Nyhan WL, Roeschinger W, Sweetman L. An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. AJDC. 1992;146:1459-1462.
20. Greene CL, Blitzer MG, Shapira E. Inborn errors of metabolism and Reye's syndrome: differential diagnosis. J Pediatr. 1988;113:156-159.