Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria

Journal of Neurology

Volumn 258, Issue 8, 2011, Pages 1564-1565

  Ali Pervaiz, M ^a   Patterson, Marc C ^a   Struys, Eduard A ^b   Salomons, Gajja S ^b   Jakobs, Cornelis ^b   Oglesbee, Devin ^a   Kirmani, Salman ^a  

^a MAYO CLINIC   (United States)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; 3 O METHYLDOPA; 5 HYDROXYINDOLEACETIC ACID; 5 METHYLTETRAHYDROFOLIC ACID; ACYLCARNITINE; ADENOSINE; AMINO ACID; CARBOXYLIC ACID; DEXTRO 2 HYDROXYGLUTARIC ACID; HEPARIN; HOMOVANILLIC ACID; LACTIC ACID; MITOCHONDRIAL ENZYME; NEOPTERIN; OXIDOREDUCTASE; PYRIDOXAL 5 PHOSPHATE; PYRUVIC ACID; TETRAHYDROBIOPTERIN; UBIDECARENONE; UNCLASSIFIED DRUG;

ACIDURIA; AMINO ACID BLOOD LEVEL; BRAIN VENTRICLE DILATATION; CHROMOSOME ANALYSIS; COARSE FACE; D2HGDH GENE; DEVELOPMENTAL DISORDER; ENURESIS; ENZYME ACTIVITY; ENZYME ANALYSIS; EYEBROW; FIBROBLAST CULTURE; GENE; GENE MUTATION; HAIR COLOR; HETEROZYGOSITY; HGSNAT GENE; HUMAN; KARYOTYPING; LABORATORY TEST; LETTER; LIP DISEASE; LIQUID CHROMATOGRAPHY; MACROCEPHALY; MICROARRAY ANALYSIS; MUCOPOLYSACCHARIDOSIS; MUSCLE HYPOTONIA; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PALATE DISEASE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RNA SPLICING; SANFILIPPO SYNDROME; SCREENING TEST; SKIN FIBROBLAST; SPEECH DISORDER; SYLVIAN FISSURE; TANDEM MASS SPECTROMETRY; TEMPORAL LOBE; UNSTEADINESS; URINALYSIS; URINE INCONTINENCE;

ACETYLTRANSFERASES; ALCOHOL OXIDOREDUCTASES; BRAIN DISEASES, METABOLIC, INBORN; CHILD; COMORBIDITY; FEMALE; HUMANS; MUCOPOLYSACCHARIDOSIS III; MUTATION;

EID: 79961029338     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-5977-1     Document Type: Letter

References (7)

1. EA Struys EE Jansen NM Verhoeven C Jacob 2004 Measurement of urinary d- and l-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-l-tartaric anhydride Clin Chem 50 8 1391 1395 15166110 10.1373/clinchem.2004.033399 1:CAS:528:DC%2BD2cXmtFKgu7g%3D (Pubitemid 38970647)
2. GJ Ruijter MJ Valstar JM Van de Kamp, et al. 2008 Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands Mol Genet Metab 93 104 111 18024218 10.1016/j.ymgme.2007.09.011 1:CAS:528: DC%2BD1cXit1Sgsrw%3D
3. R Barone F Nigro F Triulzi, et al. 1999 Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome) Neuropediatrics 30 270 274 10598840 10.1055/s-2007-973503 1:STN:280: DC%2BD3c%2FmsFyquw%3D%3D
4. X Fan H Zhang S Zhang, et al. 2006 Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C) Am J Hum Genet 79 738 744 16960811 10.1086/508068 1:CAS:528:DC%2BD28XhtVChurvM (Pubitemid 44452752)
5. VK Misra EA Struys W O'Brien, et al. 2005 Phenotypic heterogeneity in the presentation of d-2-hydroxyglutaric aciduria in monozygotic twins Mol Genet Metab 86 200 205 16081310 10.1016/j.ymgme.2005.06.005 1:CAS:528: DC%2BD2MXhtVOksLbL (Pubitemid 41412176)
6. M Kranendijk EA Struys E van Schaftingen, et al. 2010 IDH2 mutations in patients with d-2-hydroxyglutaric aciduria Science 330 336 20847235 10.1126/science.1192632 1:CAS:528:DC%2BC3cXht1Ois7fK
7. EA Struys 2006 d-2-hydroxyglutaric aciduria: unraveling the biochemical pathway and the genetic defect J Inherit Metab Dis 29 21 29 16601864 10.1007/s10545-006-0317-9 1:CAS:528:DC%2BD28XjtlWgu7w%3D