Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency

European Journal of Pediatrics

Volumn 158, Issue 9, 1999, Pages 730-733

  Steen, C ^a   Baumgartner, E R ^c   Duran, M ^d   Lehnert, W ^e   Suormala, T ^c   Fingerhut, R ^b   Stehn, M ^b   Kohlschutter A ^b  

^a Children's Hospital   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e UNIVERSITY OF FREIBURG   (Germany)

Author keywords

3 methylcrotonyl CoA carboxylase deficiency; Acute infantile hemiplegia; Branched chain amino acids; Organic aciduria

Indexed keywords

3 HYDROXYISOVALERIC ACID; 3 METHYLCROTONYLGLYCINE; BRANCHED CHAIN AMINO ACID; CARNITINE; LEUCINE; METHYLCROTONOYL COENZYME A CARBOXYLASE; PROPIONYL COENZYME A CARBOXYLASE; PYRUVATE CARBOXYLASE; UNCLASSIFIED DRUG;

AMINO ACID METABOLISM; ARTICLE; BRAIN EDEMA; BRAIN SCINTISCANNING; CASE REPORT; CONTROLLED STUDY; ENZYME ASSAY; ENZYME DEFICIENCY; FEMALE; FOCAL EPILEPSY; GLIOSIS; HEMIPARESIS; HUMAN; HUMAN CELL; HYPOGLYCEMIA; PRIORITY JOURNAL; PROTEIN RESTRICTION; RESPIRATORY FAILURE; SCHOOL CHILD; STROKE; URINARY EXCRETION;

AMINO ACID METABOLISM, INBORN ERRORS; CARBON-CARBON LIGASES; CARNITINE; DIET, PROTEIN-RESTRICTED; FAILURE TO THRIVE; FEMALE; GLIOSIS; HEMIPLEGIA; HUMANS; INFANT; LEUCINE; MENTAL RETARDATION; SEIZURES;

EID: 0032799472     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310051189     Document Type: Article

References (30)

1. 1. Adams RA, Lyon G (1996) Neurology of hereditary metabolic diseases of children. Hemisphere Publishing, McGraw-Hill, Washington
2. 2. Bannwart C, Wermuth B, Baumgartner R, Suormala T, Wiesmann UN (1992) Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome. J Inherit Metab Dis 15:863-868
3. 3. Bartlett K, Bennett MJ, Hill RP, Lashford LS, Pollitt RJ, Worth HGJ (1984) Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. J Inherit Metab Dis 7:182
4. 4. Beemer FA, Bartlett K, Duran M, Ghneim HK, Wadman SK, Bruinvis L, Ketting D (1982) Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. Eur J Pediatr 138:351-354
5. 5. Berkowic S, Bladin PF, Darby DG (1984) Metabolic disorders presenting as stroke. Med J Aust 140:421-424
6. 6. Christodoulou J, Qureshi IA, McInnes RR, Clarke JTR (1993) Ornithine transcarbamylase deficiency presenting with stroke-like episodes. J Pediatr 122:423-425
7. 7. Elpeleg ON, Havkin S, Barash V, Jakobs C, Glick B, Shalev RS (1992) Familial hypotonia of childhood caused by isolated 3-methylcrotonyl coenzyme A carboxylase deficiency. J Pediatr 121:407-441
8. 8. Finnie MDA, Seakins JWT, Snedden W (1976) Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase. Clin Chim Acta 73:513-519
9. 9. Foster JW, Hart RG (1987) Hypoglycemic hemiplegia: two cases and a clinical review. Stroke 18:944-946
10. 10. Gitzelmann R, Steinmann B, Niederwieser A, Fanconi S, Suormala T, Baumgartner ER (1987) Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at age 10 months with sopor, hypoglycaemia and ketoacidosis. J Inherit Metab Dis 10 [Suppl 2]:290-292
11. 11. Goodman SL, Norenberg MD, Shikes RH, Breslich DJ, Moe PG (1977) Glutaric aciduria: biochemical and morphologic considerations. J Pediatr 90:746-750
12. 12. Grewal RP (1994) Stroke in Fabry's disease. J Neurol 241:153-156
13. 13. Heidenreich R, Natowicz M, Hainline BE, Herman P, Kelley RI, Hillmann RE, Berry GT (1988) Acute extrapyramidal syndrome in methylmalonic acidemia: "Metabolic stroke" involving the globus pallidus. J Pediatr 113:1022-1027
14. 14. Kobori JA, Johnston K, Sweetmann L, Schmidt K, Jurecki E, Wolf H, Goodman S, Packman S (1989) Isolated 3-methylcrotonyl-CoA deficiency presenting as a Reye-like syndrome. Pediatr Res 25:142 A
15. 15. Koppel BS, Dras M (1993) Transient hypodensity on CT scan during hypoglycemia. Eur Neurol 33:80-82
16. 16. Layward EM, Tanner MS, Pollitt RJ, Bartlett K (1989) Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness. J Inherit Metab Dis 12:339-340
17. 17. Lehnert W (1994) Long-term results of selective screening for inborn errors of metabolism. Eur J Pediatr [Suppl] 153:S9-S13
18. 18. Lehnert W, Niederhoff H, Suormala T, Baumgartner ER (1996) Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. Eur J Pediatr 155:568-572
19. 19. Mourmans J, Bakkeren J, Jong J de, Wevers R, Diggelen OP van, Suormala T, Baugartner R, Wendel U (1995) Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. J Inherit Metab Dis 18:643-645
20. 20. Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, Andria G, Boers GHJ, Bromberg IL, Cerone R, Fowler B, Grobe H, Schmidt H, Schweitzer L (1985) The natural history of homocysteinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet 37:1-31
21. 21. Pavlakis S, Phillips P, DiMauro S, DeVivo D, Rowland P (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS): a distinctive clinical syndrome. Ann Neurol 16:481-488
22. 22. Rolland MO, Diery P, Zabor MT, Guibaud P, Gomez S, Lachaux A, Loras I (1991) Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old-child. J Inherit Metab Dis 14:838-839
23. 23. Rutlelge SL, Berry GT, Stanley CA, Hove JLK van, Millington D (1995) Glycine and carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis 18:299-305
24. 24. Shigematsu Y, Mori I, Kuriyama M, Konishi Y, Fujii, Sudo M (1990) Acute infantile hemiplegia in a patient with propionic acidemia. Eur J Pediatr 149:659-663
25. 25. Stibler H, Holzbach U, Tengborn L, Kristiansson B (1996) Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome Type I. Blood Coagul Fibrinolysis 7(2):118-126
26. 26. Sperl W, Felber S, Skladal D, Wermuth B (1997) Metabolic stroke in carbamyl phosphate synthetase deficiency. Neuropediatrics 1997 28(4):229-234
27. 27. Suormala T, Wick H, Bonjour J-P, Baumgartner ER (1985) Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample. Clin Chim Acta 145:151-162
28. 28. Tsai MY, Johnson DD, Sweetman L, Berry S (1989) Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency. J Pediatr 115:110-113
29. 29. Tuchman M, Berry SA, Thuy LP, Nyhan WL (1993) Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia. Pediatrics 91:664-666
30. 30. Vallee L, Fontaine M, Nuyts JP, Ricart G, Krivosic I, Divry P, Vianey-Saban C, Lhermitte M, Vamecq J (1994) Stroke, hemiparesis and deficient mitochondrial beta-oxidation. Eur J Pediatr 153:598-603