L-2-hydroxyglutaric aciduria - A rare case of macrocephaly;L-2-hydroxy-glutarazidurie - Eine seltene differenzialdiagnose der makrozephalie

Klinische Padiatrie

Volumn 218, Issue 2, 2006, Pages 72-73

  Hussmann O ^a,d   Haas, D ^c   Neubauer, B A ^a   Kruse, B ^a   Huegens Penzel, M ^a   Jakobs, C ^b   Hahn, A ^a  

^a UNIVERSITY HOSPITAL GIESSEN   (Germany)

^b Abteilung für Klinische Chemie und Pädiatrie   (Netherlands)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d Abteilung Allgemeine Pädiatrie und Neonatologie   (Germany)

Author keywords

L 2 hydroxyglutaric aciduria; Leukoencephalopathy; Macrocephaly

Indexed keywords

2 HYDROXYGLUTARIC ACID;

AMINOACIDURIA; ARTICLE; BRAIN SCINTISCANNING; CASE REPORT; CEREBELLUM DISEASE; FEMALE; HUMAN; LEUKOENCEPHALOPATHY; MACROCEPHALY; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PYRAMIDAL SIGN; SCHOOL CHILD;

ADOLESCENT; AGE FACTORS; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CHILD; CHILD, PRESCHOOL; FEMALE; GLUTARATES; HUMANS; HYDROXY ACIDS; INFANT; MAGNETIC RESONANCE IMAGING; MENTAL RETARDATION; NEUROLOGIC EXAMINATION;

EID: 33644912114     PISSN: 03008630     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2005-836848     Document Type: Article

References (13)

1. Aicardi J. Diseases of the Nervous System in Childhood. 2nd ed. Mac Keith Press, Cambridge 1998
2. Barbot C, Fineza I, Maria M, et al. L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients. Brain Dev 1997; 19: 268-273
3. Barth PG, Hoffmann GF, Jaeken J, et al. L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol 1992; 32: 66-71
4. Barth PG, Hoffmann GF, Jaeken J, et al. L-2-hydroxyglutaric acidemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. Inherit Metab Dis 1993; 16: 753-761
5. Brenner M, Johnson AB, Boespflug-Tanguy O, et al. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 2001; 27: 117-120
6. Hanefeld F, Kruse B, Bruhn H, et al. In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric acidemia. Pediat Res 1994; 35: 614-616
7. Hoffmann GF, Jakobs C, Holmes B, et al. Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria. Inherit Metab Dis 1995; 18: 189-193
8. Jansen GA, Wanders RJ. L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia. Biochim Biophys Acta 1993; 1225: 53-56
9. Kaabachi N, Larnaout A, Rabier D, et al. Familial encephalopathy and L-2-hydroxyglutaric aciduria. Inherit Metab Dis 1993; 186: 893
10. Moroni I, D'Incerti LD, Farina L, et al. Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria. Neurol Sci 2000; 21: 103-108
11. Topcu N, Jobard F, Halliez S, et al. L-2-hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet 2004; 13: 2803-2811
12. der Knaap MS Van, Barth PG, Stronik H, et al. Leukencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995; 37: 324-334
13. Wilcken B, Pitt J, Heath D, et al. L-2-Hydroxyglutaric aciduria: three Australian cases. Inherit Metab Dis 1993; 16: 501-504