REFERENCES
2. Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D. Neurological manifestations of organic acid disorders. Eur J Pediatr 1994;153:S94-100.
3. Kölker S, Koeller DM, Okun JG, Hoffmann GF. Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency. Ann Neurol 2004;55:7-12.
4. Gropman AL, Summar M, Leonard JV. Neurological implications of urea cycle disorders. J Inherit Metab Dis 2007;30:865-79.
5. Kölker S, Sauer SW, Hoffmann GF, Müller I, Morath MA, Okun JG. Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism. J Inherit Metab Dis 2008;31:194-204.
6. Palermo L, Geberhiwot T, MacDonald A, Limback E, Hall SK, Romani C. Cognitive outcomes in early-treated adults with phenylketonuria (PKU): a comprehensive picture across domains. Neuropsychology 2017;31:255-67.
7. Hofman DL, Champ CL, Lawton CL, Henderson M, Dye L. A systematic review of cognitive functioning in early treated adults with phenylketonuria. Orphanet J Rare Dis 2018;13:150.
8. Smith E, Anderson A, Thurm A, et al. Prefrontal activation during executive tasks emerges over early childhood: evidence from functional near infrared spectroscopy. Dev Neuropsychol 2017;42:253-64.
9. Kimura S, Hara M, Nezu A, Osaka H, Yamazaki S, Saitoh K. Two cases of glutaric aciduria type 1: Clinical and neuropathological findings. J Neurol Sci 1994;123:38-43.
10. Gropman AL. The neurological presentations of childhood and adult mitochondrial disease: established syndromes and phenotypic variations. Mitochondrion 2004;4:503-20.
11. Harting I, Seitz A, Geb S, et al. Looking beyond the basal ganglia: the spectrum of MRI changes in methylmalonic acidaemia. J Inherit Metab Dis 2008;31:368-78.
12. Hartwig V, Carbonaro N, Tognetti A, Vanello N. Systematic review of fMRI compatible devices: design and testing criteria. Ann Biomed Eng 2017;45:1819-35.
13. Basser PJ, Mattiello J, LeBihan D. MR diffusion tensor spectroscopy and imaging. Biophys J 1994;66:259-67.
14. Bendlin BB, Ries ML, Lazar M, et al. Longitudinal changes in patients with traumatic brain injury assessed with diffusion-tensor and volumetric imaging. Neuroimage 2008;42:503-14.
15. Hahn LA, Rose J. Working memory as an indicator for comparative cognition - detecting qualitative and quantitative differences. Front Psychol 2020;11:1954.
16. Doyle CM, Channon S, Orlowska D, Lee PJ. The neuropsychological profile of galactosaemia. J Inherit Metab Dis 2010;33:603-9.
17. Ahtam B, Waisbren SE, Anastasoaie V, et al. Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia. J Inherit Metab Dis 2020; doi: 10.1002/jimd.12279.
18. Antenor-Dorsey JA, Hershey T, Rutlin J, et al. White matter integrity and executive abilities in individuals with phenylketonuria. Mol Genet Metab 2013;109:125-31.
19. Christ SE, Huijbregts SC, de Sonneville LM, White DA. Executive function in early-treated phenylketonuria: profile and underlying mechanisms. Mol Genet Metab 2010;99 Suppl 1:S22-32.
20. Yu Q, Peng Y, Kang H, et al. Differential white matter maturation from birth to 8 years of age. Cereb Cortex 2020;30:2673-89.
21. Kono K, Okano Y, Nakayama K, et al. Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. Radiology 2005;236:630-6.
22. Peng H, Peck D, White DA, Christ SE. Tract-based evaluation of white matter damage in individuals with early-treated phenylketonuria. J Inherit Metab Dis 2014;37:237-43.
23. Vermathen P, Robert-Tissot L, Pietz J, Lutz T, Boesch C, Kreis R. Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging. Magn Reson Med 2007;58:1145-56.
24. White DA, Antenor-Dorsey JA, Grange DK, et al. White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria. Mol Genet Metab 2013;110:213-7.
25. White DA, Connor LT, Nardos B, et al. Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum. Mol Genet Metab 2010;99 Suppl 1:S41-6.
26. Anderson PJ, Wood SJ, Francis DE, Coleman L, Anderson V, Boneh A. Are neuropsychological impairments in children with early-treated phenylketonuria (PKU) related to white matter abnormalities or elevated phenylalanine levels? Dev Neuropsychol 2007;32:645-68.
27. Hood A, Rutlin J, Shimony JS, Grange DK, White DA. Brain white matter integrity mediates the relationship between phenylalanine control and executive abilities in children with phenylketonuria. In: Morava E, Baumgartner M, Patterson M, Rahman S, Zschocke J, Peters V, editors. JIMD Reports, Volume 33. Berlin: Springer Berlin Heidelberg; 2017. pp. 41-7.
28. Hood A, Antenor-Dorsey JA, Rutlin J, et al. Prolonged exposure to high and variable phenylalanine levels over the lifetime predicts brain white matter integrity in children with phenylketonuria. Mol Genet Metab 2015;114:19-24.
29. Leuzzi V, Tosetti M, Montanaro D, et al. The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study. J Inherit Metab Dis 2007;30:209-16.
30. Leuzzi V, Gualdi GF, Fabbrizi F, et al. Neuroradiological (MRI) abnormalities in phenylketonuric subjects: clinical and biochemical correlations. Neuropediatrics 1993;24:302-6.
31. Manara R, Burlina AP, Citton V, et al. Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria. Neuroradiology 2009;51:803-12.
32. Rupp A, Kreis R, Zschocke J, et al. Variability of blood-brain ratios of phenylalanine in typical patients with phenylketonuria. J Cereb Blood Flow Metab 2001;21:276-84.
33. Scarabino T, Popolizio T, Tosetti M, et al. Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion. Radiol Med 2009;114:461-74.
34. Sundermann B, Garde S, Dehghan Nayyeri M, et al. Approaching altered inhibitory control in phenylketonuria: a functional MRI study with a Go-NoGo task in young female adults. Eur J Neurosci 2020;52:3951-62.
35. Nardecchia F, Manti F, Chiarotti F, Carducci C, Carducci C, Leuzzi V. Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: a longitudinal study. Mol Genet Metab 2015;115:84-90.
36. Ding XQ, Fiehler J, Kohlschütter B, et al. MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients. J Magn Reson Imaging 2008;27:998-1004.
37. Schadewaldt P, Wendel U. Metabolism of branched-chain amino acids in maple syrup urine disease. Eur J Pediatr 1997;156 Suppl 1:S62-6.
38. Harris RA, Joshi M, Jeoung NH, Obayashi M. Overview of the molecular and biochemical basis of branched-chain amino acid catabolism. J Nutr 2005;135:1527S-30.
39. Jan W, Zimmerman RA, Wang ZJ, Berry GT, Kaplan PB, Kaye EM. MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Neuroradiology 2003;45:393-9.
40. Ha JS, Kim TK, Eun BL, et al. Maple syrup urine disease encephalopathy: a follow-up study in the acute stage using diffusion-weighted MRI. Pediatr Radiol 2004;34:163-6.
41. Righini A, Ramenghi LA, Parini R, Triulzi F, Mosca F. Water apparent diffusion coefficient and T2 changes in the acute stage of maple syrup urine disease: evidence of intramyelinic and vasogenic-interstitial edema. J Neuroimaging 2003;13:162-5.
42. Parmar H, Sitoh YY, Ho L. Maple syrup urine disease: diffusion-weighted and diffusion-tensor magnetic resonance imaging findings. J Comput Assist Tomogr 2004;28:93-7.
43. Gao Y, Guan WY, Wang J, Zhang YZ, Li YH, Han LS. Fractional anisotropy for assessment of white matter tracts injury in methylmalonic acidemia. Chin Med J (Engl) 2009;122:945-9.
44. Lau MW, Lee RW, Miyamoto R, et al. Role of diffusion tensor imaging in prognostication and treatment monitoring in niemann-pick disease type C1. Diseases 2016;4:29.
45. Poretti A, Meoded A, Fatemi A. Diffusion tensor imaging: a biomarker of outcome in Krabbe’s disease. J Neurosci Res 2016;94:1108-15.
46. Gropman AL, Gertz B, Shattuck K, et al. Diffusion tensor imaging detects areas of abnormal white matter microstructure in patients with partial ornithine transcarbamylase deficiency. AJNR Am J Neuroradiol 2010;31:1719-23.
47. Miscevic F, Foong J, Schmitt B, Blaser S, Brudno M, Schulze A. An MRspec database query and visualization engine with applications as a clinical diagnostic and research tool. Mol Genet Metab 2016;119:300-6.
48. Gropman AL. Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy. Mol Genet Metab 2005;86:2-9.
50. Mano T, Ono J, Kaminaga T, et al. Proton MR spectroscopy of Sjögren-Larsson’s syndrome. AJNR 1999;20:1671-3.
51. Boy N, Garbade SF, Heringer J, Seitz A, Kölker S, Harting I. Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1. J Inherit Metab Dis 2019;42:117-27.
52. Heindel W, Kugel H, Wendel U, Roth B, Benz-Bohm G. Proton magnetic resonance spectroscopy reflects metabolic decompensation in maple syrup urine disease. Pediatr Radiol 1995;25:296-9.
53. Sato T, Muroya K, Hanakawa J, et al. Neonatal case of classic maple syrup urine disease: usefulness of (1) H-MRS in early diagnosis. Pediatr Int 2014;56:112-5.
54. Cecil KM, Kos RS. Magnetic resonance spectroscopy and metabolic imaging in white matter diseases and pediatric disorders. Top Magn Reson Imaging 2006;17:275-93.
55. Takanashi J, Sugita K, Osaka H, Ishii M, Niimi H. Proton MR spectroscopy in Pelizaeus Merzbacher disease. AJNR 1997;18:533-5.
56. Pizzini F, Fatemi AS, Barker PB, et al. Proton MR spectroscopic imaging in Pelizaeus Merzbacher disease. AJNR 2003;24:1683-9.
57. Sener R. Pelizaeus-Merzbacher disease: diffusion MR imaging and proton MR spectroscopy findings. J Neuroradiol 2004;31:138-41.
58. Manoli I, Sloan JL, Venditti CP. Isolated methylmalonic acidemia. 2005 Aug 16 [updated 2016 Dec 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington; .
59. de Sousa C, Piesowicz AT, Brett EM, Leonard JV. Focal changes in the globi pallidi associated with neurological dysfunction in methylmalonic acidaemia. Neuropediatrics 1989;20:199-201.
60. Baker EH, Sloan JL, Hauser NS, et al. MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia. AJNR Am J Neuroradiol 2015;36:194-201.
61. Takeuchi M, Harada M, Matsuzaki K, Hisaoka S, Nishitani H, Mori K. Magnetic resonance imaging and spectroscopy in a patient with treated methylmalonic acidemia. J Comput Assist Tomogr 2003;27:547-51.
62. Byron O, Lindsay JG. The pyruvate dehydrogenase complex and related assemblies in health and disease. In: Harris JR, Marles-wright J, editors. Macromolecular protein complexes. Cham: Springer International Publishing; 2017. pp. 523-50.
63. Sofou K, Steneryd K, Wiklund LM, Tulinius M, Darin N. MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement. Mitochondrion 2013;13:364-71.
64. Rubio-Gozalbo M, Heerschap A, Trijbels J, Meirleir L, Thijssen H, Smeitink J. Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency. Magnetic Resonance Imaging 1999;17:939-44.
65. Stence NV, Fenton LZ, Levek C, et al. Brain imaging in classic nonketotic hyperglycinemia: quantitative analysis and relation to phenotype. J Inherit Metab Dis 2019;42:438-50.
66. Dobyns WB. Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia. Neurology 1989;39:817-20.
67. Takanashi J, Kurihara A, Tomita M, et al. Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency. Neurology 2002;59:210-4.
68. Gropman AL, Fricke ST, Seltzer RR, et al; Urea Cycle Disorders Consortium. 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency. Mol Genet Metab 2008;95:21-30.
69. Gropman AL, Seltzer RR, Yudkoff M, Sawyer A, VanMeter J, Fricke ST. 1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations. Mol Genet Metab 2008;94:52-60.
70. Bailey DL, Townsend DW, Valk PE, Maisey MN. Positron emission tomography: basic sciences. Secaucus, NJ: Springer-Verlag; 2005.
71. Miller JJ, Kanack AJ, Dahms NM. Progress in the understanding and treatment of Fabry disease. Biochim Biophys Acta Gen Subj 2020;1864:129437.
73. Mitsias P, Levine SR. Cerebrovascular complications of Fabry’s disease. Ann Neurol 1996;40:8-17.
74. Crutchfield KE, Patronas NJ, Dambrosia JM, et al. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 1998;50:1746-9.
75. Moore DF, Kaneski CR, Askari H, Schiffmann R. The cerebral vasculopathy of Fabry disease. J Neurol Sci 2007;257:258-63.
76. DeGraba T, Azhar S, gnat-George F, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 2000;47:229-33.
78. Korsholm K, Feldt-Rasmussen U, Granqvist H, et al. Positron emission tomography and magnetic resonance imaging of the brain in fabry disease: a nationwide, long-time, prospective follow-up. PLoS One 2015;10:e0143940.
79. Ficicioglu C, Dubroff JG, Thomas N, et al. A pilot study of fluorodeoxyglucose positron emission tomography findings in patients with phenylketonuria before and during sapropterin supplementation. J Clin Neurol 2013;9:151-6.
80. Friedland RP, Iadecola C. Roy and Sherrington (1890): a centennial reexamination of “On the regulation of the blood-supply of the brain”. Neurology 1991;41:10-4.
82. Mazoyer B, Zago L, Mellet E, et al. Cortical networks for working memory and executive functions sustain the conscious resting state in man. Brain Res Bull 2001;54:287-98.
83. Raichle ME, Snyder AZ. A default mode of brain function: a brief history of an evolving idea. Neuroimage 2007;37:1083-90. discussion 1097-9
84. Konishi M, McLaren DG, Engen H, Smallwood J. Shaped by the past: the default mode network supports cognition that is independent of immediate perceptual input. PLoS One 2015;10:e0132209.
85. Andrews-Hanna JR. The brain’s default network and its adaptive role in internal mentation. Neuroscientist 2012;18:251-70.
86. Buckner RL, Andrews-Hanna JR, Schacter DL. The brain’s default network: anatomy, function, and relevance to disease. Ann N Y Acad Sci 2008;1124:1-38.
87. Christ SE, Moffitt AJ, Peck D. Disruption of prefrontal function and connectivity in individuals with phenylketonuria. Mol Genet Metab 2010;99 Suppl 1:S33-40.
88. Christ SE, Moffitt AJ, Peck D, White DA, Hilgard J. Decreased functional brain connectivity in individuals with early-treated phenylketonuria: evidence from resting state fMRI. J Inherit Metab Dis 2012;35:807-16.
89. van Erven B, Jansma BM, Rubio-Gozalbo ME, Timmers I. Exploration of the brain in rest: resting-state functional MRI abnormalities in patients with classic galactosemia. Sci Rep 2017;7:9095.
90. Pacheco-Colón I, Washington SD, Sprouse C, Helman G, Gropman AL, VanMeter JW. Reduced functional connectivity of default mode and set-maintenance networks in ornithine transcarbamylase deficiency. PLoS One 2015;10:e0129595.
91. Gropman AL, Shattuck K, Prust MJ, et al. Altered neural activation in ornithine transcarbamylase deficiency during executive cognition: an fMRI study. Hum Brain Mapp 2013;34:753-61.
92. Lloyd-Fox S, Blasi A, Elwell CE. Illuminating the developing brain: the past, present and future of functional near infrared spectroscopy. Neurosci Biobehav Rev 2010;34:269-84.
93. Wilcox T, Biondi M. fNIRS in the developmental sciences. Wiley Interdiscip Rev Cogn Sci 2015;6:263-83.
94. Aslin RN, Mehler J. Near-infrared spectroscopy for functional studies of brain activity in human infants: promise, prospects, and challenges. J Biomed Opt 2005;10:11009.
95. Raman S, Chentouf L, DeVile C, Peters MJ, Rahman S. Near infrared spectroscopy with a vascular occlusion test as a biomarker in children with mitochondrial and other neuro-genetic disorders. PLoS One 2018;13:e0199756.
96. Anderson A, Gropman A, Le Mons C, Stratakis C, Gandjbakhche A. Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency. Mol Genet Metab 2020;129:207-12.
97. Davison JE, Davies NP, Wilson M, et al. MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation. Orphanet J Rare Dis 2011;6:19.
98. Diamond A. Normal development of prefrontal cortex from birth to young adulthood: Cognitive functions, anatomy, and biochemistry. Principles of frontal lobe function 2002: 466-503. Available from: https://psycnet.apa.org/record/2002-17547-028. [Last accessed on 4 Nov 2020].
