Treatable hereditary neuro-metabolic diseases;Les maladies métaboliques héréditaires traitables en neurologie

Revue Neurologique

Volumn 163, Issue 10, 2007, Pages 884-896

  Sedel, F ^a   Lyon Caen, O ^a   Saudubray, J M ^b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Adults; Hereditary metabolic diseases; Inborn metabolism errors; Leucodystrophy; Neurology; Treatment

Indexed keywords

5 HYDROXYTRYPTOPHAN; AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA TOCOPHEROL; ARGININE; BENZOIC ACID; BETAINE; BIOTIN; CARGLUMIC ACID; CARNITINE; CHENODEOXYCHOLIC ACID; CITRULLINE; CYANOCOBALAMIN; DEXTROMETHORPHAN; FOLIC ACID; IMIGLUCERASE; KETAMINE; LEVODOPA; MIGLUSTAT; PENICILLAMINE; PYRIDOXINE; SERINE; THIAMINE; TRIENTINE; UBIQUINONE; ZINC SULFATE;

ACIDURIA; ALPHA TOCOPHEROL DEFICIENCY; AMMONIA BLOOD LEVEL; ANOREXIA; CEREBROVASCULAR ACCIDENT; CHROMATOGRAPHY; DIARRHEA; DYSKINESIA; EPILEPSY; FABRY DISEASE; FATTY ACID OXIDATION; GAUCHER DISEASE; HUMAN; INBORN ERROR OF METABOLISM; LABORATORY TEST; METABOLIC DISORDER; METABOLIC ENCEPHALOPATHY; NAUSEA; NEUROLOGIC DISEASE; NEUROLOGY; PORPHYRIA; PSYCHIATRY; REFSUM DISEASE; REVIEW; SCREENING TEST; TACHYCARDIA; UREA CYCLE; WILSON DISEASE;

EID: 36249022787     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0035-3787(07)92631-4     Document Type: Article

References (55)

1. AKIL M, SCHWARTZ JA, DUTCHAK D et al. (1991). The psychiatric presentations of Wilson's disease. J Neuropsychiatry Clin Neurosci, 3: 377-382.
2. ARLAZOROFF A, ROITBERG B, WERBER E et al. (1991). Epileptic seizure as a presenting symptom of cerebrotendinous xanthomatosis. Epilepsia, 32: 657-661.
3. ASOLA MR. (1995). A diver unconscious after gastroenteritis. Lancet, 346: 1338.
4. BARKHOF F, VERRIPS A, WESSELING P et al. (2000). Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology, 217: 869-876.
5. BENOIST JF, ROZE E, SEDEL F. (2007). Apport de l'analyse du liquide céphalo-rachidien pour le diagnostic des maladies métaboliques héréditaires. Rev Neurol (Paris), 163 : 950-959.
6. BERGINER VM, FOSTER NL, SADOWSKY M et al. (1988). Psychiatric disorders in patients with cerebrotendinous xanthomatosis. Am J Psychiatry, 145: 354-357.
7. BOGDANOVIC MD, KIDD D, BRIDDON A, DUNCAN JS, LAND JM. (2000). Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus. J Neurol Neurosurg Psychiatry, 69: 813-815.
8. BOXER AL, KRAMER JH, JOHNSTON K et al. (2005). Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment. Neurology, 64: 1431-1434.
9. CHERIN P, SEDEL F, MIGNOT C et al. (2006). Les manifestations neurologiques de la maladie de Gaucher de type 1 : vers une remise en cause de la classification actuelle ? Rev Neurol (Paris), 162 : 1076-1083.
10. CLAVELOU P, BESSON G, ELZIERE C et al. (2006). Manifestations neurologiques de la maladie de Fabry. Rev Neurol (Paris), 162 : 569-580.
11. COHEN AUBART F, SEDEL F, PAPO T. (2007). Déficit en cystathionine beta synthase et déficit en MTHFR chez l'adulte. Rev Neurol (Paris), 163 : 904-910.
12. COWLEY DM, BOWLING FG, MCGILL JJ et al. (1998). Adult-onset arginase deficiency. J Inherit Metab Dis, 21: 677-678.
13. CRIMLISK HL. (1997). The little imitator-porphyria: a neuropsychiatric disorder. J Neurol Neurosurg Psychiatry, 62: 319-328.
14. DEBRAY FG, LAMBERT M, VANASSE M et al. (2006). Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency. Eur J Pediatr, 165: 462-466.
15. DENING TR, BERRIOS GE, WALSHE JM. (1988). Wilson's disease and epilepsy. Brain, 111: 1139-1155.
16. DE KONING TJ, POLL-THE BT, JAEKEN J. (1999). Continuing education in neurometabolic disorders - serine deficiency disorders. Neuropediatrics, 30: 1-4.
17. DINOPOULOS A, KURE S, CHUCK G et al. (2005). Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults. Neurology, 64: 1255-1257.
18. FEILLET F, STEINMANN G, VIANEY-SABAN C et al. (2003). Adult presentation of MCAD deficiency revealed by coma and severe arrythmias. Intensive Care Med, 29: 1594-1597.
19. FILLEY CM, KLEINSCHMIDT-DEMASTERS BK. (2001). Toxic leukoencephalopathy. N Engl J Med, 345: 425-432.
20. FREEMAN JM, FINKELSTEIN JD, MUDD SH. (1975). Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity. N Engl J Med, 292: 491-496.
21. HANSEN FJ, BLAU N. (2005). Cerebral folate deficiency: life-changing supplementation with folinic acid. Mol Genet Metab, 84: 371-373.
22. JUNG KH, AHN TB, JEON BS. (2005). Wilson disease with an initial manifestation of polyneuropathy. Arch Neurol, 62: 1628-1631.
23. KASIM S, MOO LR, ZSCHOCKE J et al. (2001). Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia. J Neurol Neurosurg Psychiatry, 71: 795-797.
24. KAUPPINEN R. (2005). Porphyrias. Lancet, 365: 241-252.
25. KELLY PJ, FURIE KL, KISTLER et al. (2003). Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency. Neurology, 60: 275-279.
26. KULKENS S, HARTING I, SAUER S et al. (2005). Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology, 64: 2142-2144.
27. LAFORÊT P, NICOLINA M, EYMARD B. (2007). Nouveautés dans le traitement des myopathies métaboliques. Rev Neurol (Paris), 163: 930-935.
28. LAMPERTI C, NAINI A, HIRANO M et al. (2003). Cerebellar ataxia and coenzyme Q10 deficiency. Neurology, 60: 1206-1208.
29. LIVINGSTONE IR, GARDNER-MEDWIN D, PENNINGTON RJ. (1984). Familial intermittent ataxia with possible X-linked recessive inheritance. Two patients with abnormal pyruvate metabolism and a response to acetazolamide. J Neurol Sci, 64: 89-97.
30. MAILLOT F, CRENN P. (2007). Les déficits du cycle de l'urée chez les patients adultes. Rev Neurol (Paris), 163 : 897-903.
31. MARTINELLO F, FARDIN P, OTTINA M et al. (1998). Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia. J Neurol Sci, 156: 177-179.
32. MELLICK G, PRICE L, BOYLE R. (2004). Late-onset presentation of pyruvate dehydrogenase deficiency. Mov Disord, 19: 727-729.
33. OZAND PT, GASCON GG, AL ESSA M et al. (1998). Biotin-responsive basal ganglia disease: a novel entity. Brain, 121: 1267-1279.
34. PENDLEBURY ST, ROTHWELL PM, DALTON A, BURTON EA. (2004). Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation. Neurology, 63: 1982-1983.
35. POWERS JM, ROSENBLATT DS, SCHMIDT RE et al. (2001). Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency. Ann Neurol, 49: 396-400.
36. RAMAEKERS VT, BRAB M, RAU G, HEIMANN G. (1993). Recovery from neurological deficits following biotin treatment in a biotinidase Km variant. Neuropediatrics, 24: 98-102.
37. ROLFS A, BOTTCHER T, ZSCHIESCHE M et al. (2005). Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet, 366: 1794-1796.
38. ROZE E, GERVAIS D, DEMERET S et al. (2003). Neuropsychiatric disturbances in presumed late-onset cobalamin C disease. Arch Neurol, 60: 1457-1462.
39. RYAN MM, SIDHU RK, ALEXANDER J, MEGERIAN JT. (2002). Homocystinuria presenting as psychosis in an adolescent. J Child Neurol, 17: 859-860.
40. SALVI S, SANTORELLI FM, BERTINI E et al. (2001). Clinical and molecular findings in hyperornithinemia- hyperammonemia-homocitrullinuria syndrome. Neurology, 57: 911-914.
41. SAUDUBRAY JM, SEDEL F, WALTER JH. (2006). Clinical approach to treatable inborn metabolic diseases: an introduction. J Inherit Metab Dis, 29: 261-274.
42. SEDEL F, TOURBAH A, BAUMANN N et al. (2005). Les leucoencéphalopathies génétiques de l'adulte. Rev Neurol (Paris), 161 : 916-31.
43. SEDEL F, LYON-CAEN O, SAUDUBRAY JM. (2007). Inborn errors of metabolism in adult neurology - a clinical approach focused on treatable diseases. Nature Clinical Practice Neurology, 3: 279-290.
44. SEDEL F, BARNERIAS C, DUBOURG O, DESGUERRES I, LYON-CAEN O, SAUDUBRAY JM. (2007). Peripheral Neuropathy and inborn errors of metabolism in adults. J Inherit Metab Dis. Sous presse.
45. THAUVIN C, ROZE E. (2007). Troubles du métabolisme des cobalamines chez l'adulte. Rev Neurol (Paris), 163 : 911-918.
46. THOMPSON AJ, SMITH I, BRENTON D et al. (1993). Brain MRI changes in phenylketonuria. Associations with dietary status. Brain, 116: 811-821.
47. VAN MALDERGEM L, TRIJBELS F, DIMAURO S et al. (2002). Coenzyme Q-responsive Leigh's encephalopathy in two sisters. Ann Neurol, 52: 750-754.
48. VERRIPS A, NIJEHOLT GJ, BARKHOF F et al. (1999). Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis. Brain, 122: 1589-1595.
49. VERRIPS A, VAN ENGELEN BG, TER LAAK H et al. (2000a). Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients. Neuromuscul Disord, 10: 407-414.
50. VERRIPS A, HOEFSLOOT LH, STEENBERGEN GC et al. (2000b). Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain, 123: 908-919.
51. WALTER JH, WRAITH JE. (2006). Treatment: present status and new trends. In: Saudubray JM, van den Berghe G, Walter J, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin, Springer-Verlag; pp. 81-100.
52. WILLS AJ, MANNING NJ, REILLY MM. (2001). Refsum's disease. QJM, 94: 403-406.
53. WINKLER AS, PETERS TJ, ELWES RD. (2005). Neuropsychiatric porphyria in patients with refractory epilepsy: report of three cases. J Neurol Neurosurg Psychiatry, 76: 380-383.
54. WINKELMAN MD, BANKER BQ, VICTOR M, MOSER HW. (1983). Noninfantile neuronopathic Gaucher's disease: a clinicopathologic study. Neurology, 33: 994-1008.
55. WOIMANT F, CHAINE P, FAVROLE P, MIKOL J, CHAPPUIS P. (2006). La maladie de Wilson. Rev Neurol (Paris), 162 : 773-781.