3-hydroxy-3-methylglutaric aciduria and recurrentreye-ukesyndrome;Aciduria 3 -hidroxi-3 -metilglutârica y sîndrome Reye-like récurrente

Revista de Neurologia

Volumn 26, Issue 154, 1998, Pages 911-914

  Eiris, J ^a,b,c,d   Ribes, A ^a   Fernandez Prieto R ^a   Rodriguez Garcia, J ^a   Rodriguez Segade, S ^a   Castro Gago, M ^a  

^a Servicio de Neuropediatría   (Spain)

^b HOSPITAL GENERAL DE GALICIA   (Spain)

^c Institut de Bioquimica Clinica Barcelona   (Spain)

^d Universidad de La Coruña   (Spain)

Author keywords

3 hydmxy 3 metliylgliita>yl coeiizime a lyase deficiency; Carniline deficiency; Leukoencephalopathy; Reye like syndrome

Indexed keywords

3 HYDROXY 3 METHYLGLUTARIC ACID; 3 HYDROXY 3 METHYLGLUTARYL COENZYME A; 3 METHYLGLUTACONIC ACID; 3 METHYLGLUTARIC ACID; ACETOACETIC ACID; ACETYL COENZYME A; AMINOTRANSFERASE; HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE; LEUCINE; VALERIC ACID; 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE; CARNITINE; HYDROXYMETHYLGLUTARYL COENZYME A LYASE; LYASE;

ACIDURIA; ADOLESCENT; AMINO ACID METABOLISM; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; CARNITINE DEFICIENCY; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; FATTY LIVER; FEMALE; HUMAN; KETOGENESIS; RECURRENT DISEASE; REYE SYNDROME; ACIDOSIS; APNEA; COMA; DIFFERENTIAL DIAGNOSIS; ENZYMOLOGY; FIBROBLAST; GENETICS; HEPATOMEGALY; HYPOGLYCEMIA; PHENOTYPE; URINE;

ACIDOSIS; ADOLESCENT; APNEA; CARNITINE; COMA; DIAGNOSIS, DIFFERENTIAL; FATTY LIVER; FEMALE; FIBROBLASTS; HEPATOMEGALY; HUMANS; HYPOGLYCEMIA; MEGLUTOL; OXO-ACID-LYASES; PHENOTYPE; RECURRENCE; REYE SYNDROME;

EID: 0032297203     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.26154.97330     Document Type: Article

References (27)

1. Faull K, Bolton P, Halpem B, Hammond J, Danks DM, Hahnel RR, et al. Patient with defect in leucine metabolism. N Engl J Med 1976; 294: 1013.
2. Clinkenbeard KD, Reeds WD, Mooney RA, Lane MD. Intracellular localization of the 3-hydroxy-3-methylglutaryl coenzyme A cycle enzymes in the liver. J Biol Chem 1975; 250: 3108-16.
3. Lyon G, Adams RD, Kolodny EH. Early infantile progressive metabolic encephalopathies: Clinical problems and diagnostic considerations. In Lyon G, Adams RD, Kolodny EH, eds. Neurology of hereditary metabolic diseases of children. 2 ed. New York: McGraw-Hill; 1996. p. 105-6.
4. Gibson KM, Breuer J, Nyham WL. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: Review of 18 reported patients. Eur J Pediatr 1988; 148: 180-6.
5. Ozand PT, Al Aqeel A, Gascon G, Brismar J, Thomas E, Gleispach H. 3-hydroxy-3-methylgIutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia. J Inher Metab Dis 1991; 14: 174-88.
6. Ploechl E, Bachmann C, Colombo JP, Gibson KM. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. J Inher Metab Dis 1989; 12: 343.
7. Vilaseca MA, Ribes A, Briones P, Cusi V, Baraibar R, Gain JM. Muerte sûbita en un paciente con deficiencia de 3-hidroxi-3-metilglutaril-Coenzima A liasa. An Esp Pediatr 1990; 32: 149-53.
8. Gibson KM, Cassisy SB, Seaver LH, Wanders RJA, Kennaway NG, Mitchell GA, et al. Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. J Inher Metab Dis 1994; 17: 29M.
9. Duran M, Ketting D, Wadman SK, Jacobs C, Schutgens RBH, Veder HA. Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: Facts and artefacts. Clin Chim Acta 1978; 90: 187-93.
10. Schutgens RBH, Heymans H, Ketel A, Veder HA, Duran M, Ketting D, et al. Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase. J Pediatr 1979; 94: 89-91.
11. Walter JH, Clayton PT, Leonard JV. 3-hydroxy-3-methylgIutaryI-CoA lyase deficiency. J Inher Metab Dis 1986; 9: 287-8.
12. Green C, Blitzer M, Bronfin D, Shapira E. 3-hydroxy-3-methylglutaric aciduria presenting as Reye syndrome in an infant. Clin Res 1986; 34: 2.4la.
13. Mitchell GA, Jacobs C, Gibson KM, Robert MI, Burline A, DionisiVici C, et al. Molecular prenatal diagnosis of 3-hidroxy-3-methylglutaryl CoA lyase deficiency. Prenat Diagn 1995; 15: 725-9.
14. Buesa C, Pie J, Barcelö A, Casals N, Mascarô C, Casale CH, et al. Aberrantly spliced mRNAs of the 3-hydroxy-3-methyIgIutaryI coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency. J Lip Res 1996; 37: 2420-32.
15. Pie J, Casals N, Casale CH, Buesa C, Mascaro C, Barcelö A, et al. A nonsense mutation in the 3-hydroxy-3-methyIglutaryl coenzyme A lyase (HL) gene produces exon skipping in two patients of different . origin with HL deficiency. Biochem J 1997; 323: 329-35.
16. Wanders RIA, Schutgens RBH, Zoeter PHM. 3-hydroxy-3-methylgIutaryl-CoA lyase in human skin fibroblasts: Study of its properties and deficient activity in 3-hydroxy-3-methyIgIutaric aciduria patients using a simple spectrophotometric method. Clin Chim Acta 1988; 95-102.
17. Chamoles N. Errores congénitos del metabolismo. En Fejerman N, Fernândez-Alvarez E, eds. Neurologia pediâtrica. 2 ed. Buenos Aires: Editorial Médica Panamericana; 1977. p. 306.
18. Quintillâ JM, Campistol J, Vilaseca MA, Palomeque A, Briones P, Ribes A. Sindrome de Reye-like como manifestaciön inicial de una deficiencia del complejo 111 de la cadcna respiratoria. Rev Neurol 1996; 24: 1151 (abstract).
19. Hammond J, Wilcken B. 3-hydroxy-3-methyIglutaric, 3-methyIgIutaconic and 3-methylglutaric acids can be non-specific indicators of metabolic disease. J Inner Metab Dis 1984; 117-8.
20. Rodrigo E, Novo I, Castro-Gago M, Rodriguez-Segade S, Camina F. Estudio clinico-experimental sobre la repercusion del âcido valproico a nivel del metabolismo de la carnitina y del ciclo de la urea. Libra Premios Nutriciön Infantil. Barcelona: Ancora; 1992. p. 151-97.
21. Karpati G, Carpenter S, Engel A, Watters G, Allen J, Rothman S, et al. The syndrome of systemic camitine deficiency. Clinical, morphologic, biochemical and pathologic features. Neurology 1975; 25: 16-24.
22. Engel AG, Rebouche CI, Wilson DM, Glasgow AM, Romshe CA, Cruse RP. Primary systemic carnitine deficiency. II. Renal handling of camitine. Neurology 1981; 31: 819-25.
23. Chapoy PR, Angelini C, Brown WJ, Stiff JE, Shung AL, Cederbaun SD. Systemic camitine deficiency. A treatable inherited lipid-storage disease presenting as Reye's syndrome. N Engl J Med 1980; 303: 1389-94.
24. Chalmers RA, Roe CR, Stacey TE, Hoppel CL. Urinary excretion of L-camitine and acylcarnitines by patients with disorders of organic acid metabolism: Evidence for secondary insufficiency of L-carnitine. Pediatr Res 1984; 18: 1325-8.
25. Chalmers RA, Stacey TE, Tracey BM, De Sousa C, Roe CR, Millington D, et al. L-camitine insufficiency in disorders of organic acid metabolism: Response to L-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methylglutaric aciduria. J Inher Met Dis 1984; (Suppl 2) 7: 109-10.
26. Dasouki M, Buchanan D, Mercer N, Gibson KM, Thoene J. 3-hydroxy3-methylglutaric aciduria; Response to camitine therapy and fat and leucine restriction. J Inner Met Dis I987; 10: 142-6.
27. Stumpf DA, Parker WD Jr, Angelini C. Carnitine deficiency in organic acidemias and Reye's syndrome. Neurology 1985; 35: 1041-5.