Inborn errors of metabolism for the diagnostic radiologist

Pediatric Radiology

Volumn 39, Issue 3, 2009, Pages 211-220

  Hendriksz, Chris J ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Children; Inborn errors of metabolism; Radiology

Indexed keywords

NITISINONE;

ACIDURIA; ALKAPTONURIA; ALPERS DISEASE; ATAXIA; CLINICAL FEATURE; DIAGNOSTIC IMAGING; DIET SUPPLEMENTATION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FABRY DISEASE; FATTY ACID OXIDATION DISORDER; GAUCHER DISEASE; GLOBOID CELL LEUKODYSTROPHY; GLYCOGEN STORAGE DISEASE TYPE 2; HOMOCYSTINURIA; HUMAN; HYDROXYMETHYLGLUTARYL COENZYME A LYASE DEFICIENCY; HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE DEFICIENCY; INBORN ERROR OF METABOLISM; KEARNS SAYRE SYNDROME; LEBER HEREDITARY OPTIC NEUROPATHY; LEIGH DISEASE; LIPIDOSIS; LOW DRUG DOSE; MANNOSIDOSIS; MAPLE SYRUP URINE DISEASE; METACHROMATIC LEUKODYSTROPHY; METHYLMALONIC ACIDURIA; MNGIE SYNDROME; MOLYBDENUM COFACTOR DEFICIENCY; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MYOCLONUS EPILEPSY; NERVE DEGENERATION; NIEMANN PICK DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PEARSON SYNDROME; PHENYLKETONURIA; PRIORITY JOURNAL; RADIOLOGIST; RETINITIS PIGMENTOSA; REVIEW; STROKE; SULPHITE OXIDASE DEFICIENCY; TYROSINEMIA; UREA CYCLE DEFECT; VITAMIN SUPPLEMENTATION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DIAGNOSTIC IMAGING; HUMANS; INFANT; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; NEONATAL SCREENING;

EID: 59449088156     PISSN: 03010449     EISSN: 14321998     Source Type: Journal    
DOI: 10.1007/s00247-008-1072-x     Document Type: Review

References (61)

1. A Garrod 1902 The incidence of alkaptonuria: a study in chemical individuality Lancet 2 1616 1620
2. MA Cleary JH Walter JE Wraith 1995 Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change J Pediatr 127 251 255
3. S Santra U Baumann 2008 Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1 Expert Opin Pharmacother 9 1229 1236
4. RN Sener 2005 Tyrosinemia: computed tomography, magnetic resonance imaging, diffusion magnetic resonance imaging, and proton spectroscopy findings in the brain J Comput Assist Tomogr 29 323 325
5. A Perrone L Impara A Bruni 2005 Radiographic and MRI findings in ochronosis Radiol Med (Torino) 110 349 358
6. JJ Gaines Jr GM Pai 1987 Cardiovascular ochronosis Arch Pathol Lab Med 111 991 994
7. CY Lu JW Hou PJ Wang 1996 Homocystinuria presenting as fatal common carotid artery occlusion Pediatr Neurol 15 159 162
8. M Herrmann T Widmann W Herrmann 2005 Homocysteine - a newly recognised risk factor for osteoporosis Clin Chem Lab Med 43 1111 1117
9. AB Dublin JK Hald SL Wootton-Gorges 2002 Isolated sulfite oxidase deficiency: MR imaging features AJNR 23 484 485
10. C Hoffmann B Ben Zeev Y Anikster 2007 Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency J Child Neurol 22 1214 1221
11. S Schonberger B Schweiger B Schwahn 2004 Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease Mol Genet Metab 82 69 75
12. H Parmar YY Sitoh L Ho 2004 Maple syrup urine disease: diffusion-weighted and diffusion-tensor magnetic resonance imaging findings J Comput Assist Tomogr 28 93 97
13. W Jan RA Zimmerman ZJ Wang 2003 MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation Neuroradiology 45 393 399
14. WJ Zinnanti J Lazovic C Housman 2007 Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I J Clin Invest 117 3258 3270
15. J Brismar PT Ozand 1995 CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients AJNR 16 675 683
16. DT Whelan R Hill ED Ryan 1979 L-Glutaric acidemia: investigation of a patient and his family Pediatrics 63 88 93
17. C Barbot I Fineza L Diogo 1997 L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients Brain Dev 19 268 273
18. NF Clarke I Andrews K Carpenter 2003 D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses Am J Med Genet 120A 523 527
19. MS van der Knaap C Jakobs GF Hoffmann 1999 D-2-hydroxyglutaric aciduria: further clinical delineation J Inherit Metab Dis 22 404 413
20. KL Kwong T Mak CM Fong 2002 D-2-Hydroxyglutaric aciduria and subdural haemorrhage Acta Paediatr 91 716 718
21. K Sugita H Kakinuma Y Okajima 1995 Clinical and MRI findings in a case of D-2-hydroxyglutaric aciduria Brain Dev 17 139 141
22. IS Talkhani J Saklatvala J Dwyer 2000 D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis Skeletal Radiol 29 289 292
23. EM Honey M van Rensburg DP Knoll 2003 Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination Clin Dysmorphol 12 95 99
24. S Kjaergaard N Graem T Larsen 1998 Recurrent fetal polycystic kidneys associated with glutaric aciduria type II APMIS 106 1188 1193
25. J Takanashi K Fujii K Sugita 1999 Neuroradiologic findings in glutaric aciduria type II Pediatr Neurol 20 142 145
26. AK Firat HM Karakas C Yakinci 2006 Magnetic resonance spectroscopic characteristics of glutaric aciduria type II Dev Med Child Neurol 48 847 850
27. J Brismar PT Ozand 1994 CT and MR of the brain in disorders of the propionate and methylmalonate metabolism AJNR 15 1459 1473
28. C Yalcinkaya A Dincer E Gunduz 1999 MRI and MRS in HMG-CoA lyase deficiency Pediatr Neurol 20 375 380
29. PT Ozand M Rashed GG Gascon 1994 3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms Brain Dev 16 Suppl 38 45
30. LM Leijser LS de Vries MA Rutherford 2007 Cranial ultrasound in metabolic disorders presenting in the neonatal period: characteristic features and comparison with MR imaging AJNR 28 1223 1231
31. M Takeoka TB Soman VE Shih 2001 Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy Pediatr Neurol 24 193 199
32. S Gungor A Akinci AK Firat 2008 Neuroimaging findings in hyperargininemia J Neuroimaging 18 457 462
33. E Roze C Azuar C Menuel 2007 Usefulness of magnetic resonance spectroscopy in urea cycle disorders Pediatr Neurol 37 222 225
34. S Albayram KJ Murphy P Gailloud 2002 CT findings in the infantile form of citrullinemia AJNR 23 334 336
35. YC Wong WL Au M Xu 2007 Magnetic resonance spectroscopy in adult-onset citrullinemia: elevated glutamine levels in comatose patients Arch Neurol 64 1034 1037
36. L Valanne L Ketonen A Majander 1998 Neuroradiologic findings in children with mitochondrial disorders AJNR 19 369 377
37. BC Chu S Terae C Takahashi 1999 MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review Neuroradiology 41 759 764
38. P Kapeller F Fazekas H Offenbacher 1996 Magnetic resonance imaging and spectroscopy of progressive cerebral involvement in Kearns Sayre syndrome J Neurol Sci 135 126 130
39. M Hirano G Silvestri DM Blake 1994 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder Neurology 44 721 727
40. N Gordon 2006 Alpers syndrome: progressive neuronal degeneration of children with liver disease Dev Med Child Neurol 48 1001 1003
41. AK Afifi Y Sato MH Waziri 1990 Computed tomography and magnetic resonance imaging of the brain in Hurler's disease J Child Neurol 5 235 241
42. E Miebach 2005 Enzyme replacement therapy in mucopolysaccharidosis type I Acta Paediatr Suppl 94 58 60
43. B Bembi G Ciana E Mengel 2002 Bone complications in children with Gaucher disease Br J Radiol 75 Suppl 1 A37 A44
44. D Elstein A Abrahamov A Dweck 2002 Gaucher disease: pediatric concerns Paediatr Drugs 4 417 426
45. G Hermann GM Pastores IF Abdelwahab 1997 Gaucher disease: assessment of skeletal involvement and therapeutic responses to enzyme replacement Skeletal Radiol 26 687 696
46. PL McCormack KL Goa 2003 Miglustat Drugs 63 2427 2434
47. K McHugh OE Olsen A Vellodi 2004 Gaucher disease in children: radiology of non-central nervous system manifestations Clin Radiol 59 117 123
48. DS Vom L Poll M Di Rocco 2006 Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients Curr Med Res Opin 22 1045 1064
49. T Seto K Kono K Morimoto 2001 Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation Ann Neurol 50 79 92
50. L Vedolin IV Schwartz M Komlos 2007 Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings Neurology 69 917 924
51. B Wilken P Dechent F Hanefeld 2008 Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine Eur J Paediatr Neurol 12 56 60
52. H Yamada M Ohya T Higeta 1987 Craniosynostosis and hydrocephalus in I-cell disease (mucolipidosis II) Childs Nerv Sys 3 55 57
53. R Rodrigues E Marchiori NL Muller 2004 Niemann-Pick disease: high-resolution CT findings in two siblings J Comput Assist Tomogr 28 52 54
54. S Palmeri C Battisti A Federico 1994 Hypoplasia of the corpus callosum in Niemann-Pick type C disease Neuroradiology 36 20 22
55. G Tedeschi S Bonavita NW Barton 1998 Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease J Neurol Neurosurg Psychiatry 65 72 79
56. O Lidove I Klein JD Lelievre 2006 Imaging features of Fabry disease AJR 186 1184 1191
57. S Choi DR Enzmann 1993 Infantile Krabbe disease: complementary CT and MR findings AJNR 14 1164 1166
58. TS Kim IO Kim WS Kim 1997 MR of childhood metachromatic leukodystrophy AJNR 18 733 738
59. B Kruse F Hanefeld HJ Christen 1993 Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo J Neurol 241 68 74
60. RA Boxer M Fishman MA LaCorte 1986 Cardiac MR imaging in Pompe disease J Comput Assist Tomogr 10 857 859
61. MS van der Knaap NM Verhoeven P Maaswinkel-Mooij 2000 Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect Ann Neurol 47 540 543