Organik Asidemiler ve Görüntüleme Bulguları

Ozand PT, Gascon GG. Organic acidurias: a review. Part I. J Chil Neurol. 1991;6:196–219.

Villani GR, Gallo G, Scolamiero E, Salvatore F, Ruoppolo M. "Classical organic acidurias": diagnosis and pathogenesis. Clin Exp Med. 2017;17:305-23.

Lehotay DC, Clarke JT. Organic acidurias and related abnormalities. Crit Rev Clin Lab Sci. 1995;32:377–429.

Patay Z, Blaser SI, Poretti A, Huisman TA. Neurometabolic diseases of childhood. Pediatr Radiol. 2015;45(3):473–484.

O'Shea CJ, Sloan JL, Wiggs EA, et al. Neurocognitive phenotype of isolated methylmalonic acidemia. Pediatrics. 2012;129:e1541–51.

Hörster F, Baumgartner MR, Viardot C, et al. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res. 2007;62:225–30.

Tuncel AT, Boy N, Morath MA, Hörster F, Mütze U, Kölker S. Organic acidurias in adults:late complications and management. J Inherit Metab Dis. 2018;41:765–76.

Baumgartner MR, Hörster F, Dionisi-Vici C, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014;9:130.

Lee N-C, Chien Y-H, Peng S-F, et al. Brain damage by mild metabolic derangements in methylmalonic acidemia. Pediatric neurology. 2008;39(5):325-329.

Whitehead MT, Gropman AL. Other metabolic syndromes. Imaging and metabolism. 2018:281-324.

Ibrahim MF, Girgis MY, Nassar SI, Seif HM, Kamel SM, Kamel MA. Brain Magnetic Resonance Imaging in Organic Acidemias: A Single Center Experience. Pediatric Sciences Journal. 2023;3(2):72-80.

Radmanesh A, Zaman T, Ghanaati H, Molaei S, Robertson RL, Zamani AA. Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature. Pediatric radiology. 2008;38:1054-1061.

Delgado C, Macías C, de la Sierra García-Valdecasas M, Pérez M, del Portal LR, Jiménez LM. Subacute presentation of propionic acidemia. J Child Neurol. 2007;22:1405–7.

Grünert SC, Müllerleile S, de Silva L, et al. Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis. 2012;35:41–9.

Kandel A, Amatya SK, Yeh EA. Reversible diffusion weighted imaging changes in propionic acidemia. Journal of child neurology. 2013;28(1):128-131.

Cakir B, Teksam M, Kosehan D, Akin K, Koktener A. Inborn errors of metabolism presenting in childhood. Journal of Neuroimaging. 2011;21(2):e117-e133.

Karall D, Haberlandt E, Schimmel M, et al. Cytotoxic not vasogenic edema is the cause for stroke-like episodes in propionic acidemia. Neuropediatrics. 2011:210-210.

Chemelli AP, Schocke M, Sperl W, Trieb T, Aichner F, Felber S. Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia. Journal of Magnetic Resonance Imaging: An Official Journal of the International Society for Magnetic Resonance in Medicine. 2000;11(6):596-600.

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 journal of rare diseases. 2011;6(1):1-7.

Dave P, Curless RG, Steinman L. Cerebellar hemorrhage complicating methylmalonic and propionic acidemia. Archives of neurology. 1984;41(12):1293-1296.

Couce ML, Aldamiz-Echeverria L, Bueno MA, et al. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. J Hum Genet. 2017;62:355-360.

Vockley J, Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet 2006;142:95–103.

Sogut A, Acun C, Aydin K, Tomsac N, Demirel F, Aktuglu C. Isovaleric acidaemia: cranial CT and MRI findings. Pediatric radiology. 2004;34:160-162.

Poretti A, Blaser SI, Lequin MH, et al. Neonatal neuroimaging findings in inborn errors of metabolism. Journal of Magnetic Resonance Imaging. 2013;37(2):294-312.

Frazier DM, Allgeier C, Homer C, et al. Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Mol Genet Metab. 2014;112:210–7.

Ha JS, Kim T-K, Eun B-L, et al. Maple syrup urine disease encephalopathy: a follow-up study in the acute stage using diffusion-weighted MRI. Pediatric radiology. 2004;34:163-166.

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;45:393-399.

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. Journal of Neuroimaging. 2003;13(2):162-165.

Blüml S, Panigrahy A. MR spectroscopy of pediatric brain disorders. Springer Science & Business Media; 2012.

Terek D, Koroglu O, Yalaz M, et al. Diagnostic tools of early brain disturbances in an asymptomatic neonate with maple syrup urine disease. Neuropediatrics. 2013;44(04):208-212.

Baumgartner MR, Almashanu S, Suormala T, et al. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest. 2001; 107:495-504.

Bannwart C, Wermuth B, Baumgartner R, Suormala T, Weismann UN. Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome. J Inherit Metab Dis. 1992;15(6):863-8.

Friebel D, Von Der Hagen M, Baumgartner E, et al. The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin. Neuropediatrics. 2006;37(02):72-78.

Baumgartner MR, Dantas MF, Suormala T, et al. Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. The American Journal of Human Genetics. 2004;75(5):790-800.

Tavasoli AR, Shervin Badv R, Zschocke J, Ashrafi MR, Rostami P. Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review. Brain Dev. 2017;39(8):714-716.

Dudipala SC, M P, B KC, Chenalla LK. Acute Encephalopathic Presentation of 3-Methylglutaconic Aciduria Type I With a Novel Mutation in AUH Gene. Cureus. 2020;12(12):e11951.

Wortmann SB, Ziętkiewicz S, Kousi M, et al. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. The American Journal of Human Genetics. 2015;96(2):245-257.

Arbelaez A, Castillo M, Stone J. MRI in 3-methylglutaconic aciduria type 1. Neuroradiology. 1999;41:941-942.

Pantaleoni C, D’Arrigo S, D’Incerti L, Rimoldi M, Riva D. A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. Pediatric neurology. 2000;23(5):442-444.

Eriguchi M, Mizuta H, Kurohara K, et al. 3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset. Neurology. 2006;67(10):1895-1896.

Capo-Chichi J-M, Boissel S, Brustein E, et al. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. Journal of medical genetics. 2015;52(5):303-311.

Benzoni C, Magri S, Moscatelli M, et al. 3-Methylglutaconic Aciduria Type I: A Rare Cause of Late-Onset Leukoencephalopathy. Neurology Genetics. 2022;8(5)

Porta F, Chiesa N, Martinelli D, Spada M. Clinical, biochemical, and molecular spectrum of short/branchedchain acyl-CoA dehydrogenase defciency: two new cases and review of literature. J Pediatr Endocrinol Metab. 2019;32(2):101–108.

Lin Y, Gao H, Lin C, et al. Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening. Front Genet. 2019;10:802.

Reddy GS, Sujatha M. A rare case of short-chain acyl-COA dehydrogenase deficiency: The apparent rarity of the disorder results in under diagnosis. Indian Journal of Clinical Biochemistry. 2011;26:312-315.

Chiplunkar S, Bindu PS, Nagappa M, et al. Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency. Metabolic brain disease. 2017;32:967-970.

Van der Knaap MS, Valk J. Magnetic resonance of myelination and myelin disorders. Springer Science & Business Media; 2005.

Sasarman F, Ferdinandusse S, Sinasac DS, et al. 3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method. J Inherit Metab Dis. 2022;45(3):445-455.

Meyer M, Hollenbeck JC, Reunert J, et al. 3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism. J Inherit Metab Dis. 2021;44(6):1323-1329.

Sasaki M, Yamada N, Fukumizu M, Sugai K. Basal ganglia lesions in a patient with 3-hydroxyisobutyric aciduria. Brain and Development. 2006;28(9):600-603.

Boy N, Mühlhausen C, Maier EM, et al. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision. J Inherit Metab Dis. 2023;46(3):482-519.

Twomey EL, Naughten ER, Donoghue VB, Ryan S. Neuroimaging findings in glutaric aciduria type 1. Pediatric radiology. 2003;33:823-830.

Mohammad SA, Abdelkhalek HS, Ahmed KA, Zaki OK. Glutaric aciduria type 1: neuroimaging features with clinical correlation. Pediatric radiology. 2015;45:1696-1705.

Superti-Furga A, Hoffmann G. Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions: Report from an international meeting. European journal of pediatrics. 1997;156:821-828.

Woelfle J, Kreft B, Emons D, Haverkamp F. Subdural hemorrhage as an initial sign of glutaric aciduria type 1: a diagnostic pitfall. Pediatric radiology. 1996;26:779-781.

Hoffmann G, NAUGHTEN E. Abuse or metabolic disorder? Archives of disease in childhood. 1998;78(4):395.

Köhler M, Hoffmann GF. Subdural haematoma in a child with glutaric aciduria type I. Pediatric Radiology. 1998;28(8):582.

Faiyaz-Ul-Haque M, Al-Sayed MD, Faqeih E, et al. Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. Ann Saudi Med. 2014;34(2):107-14.

Seijo-Martínez M, Navarro C, del Río MC, et al. L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. Archives of neurology. 2005;62(4):666-670.

Steenweg ME, Salomons GS, Yapici Z, et al. L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. Radiology. 2009;251(3):856-865.

Kular S. Findings on serial MRI in a childhood case of L2-hydroxyglutaric aciduria. Radiology Case Reports. 2020;15(1):59-64.

Larnaout A, Hentati F, Belal S, Ben Hamida C, Ben Hamida M, Kaabachi N. Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria. Acta neuropathologica. 1994;88:367-370.

Goffette S, Duprez T, Nassogne MC, Vincent MF, Jakobs C, Sindic C. L‐2‐Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters. European journal of neurology. 2006;13(5):499-504.

Fourati H, Ellouze E, Ahmadi M, et al. MRI features in 17 patients with l2 hydroxyglutaric aciduria. European journal of radiology open. 2016;3:245-250.

Vaidyanathan K, Narayanan MP, Vasudevan DM. Organic acidurias: an updated review. Indian J Clin Biochem. 2011;26(4):319-25.

Yannicelli S. Nutrition therapy of organic acidaemias with amino acid-based formulas: emphasis on methylmalonic and propionic acidaemia. J Inherit Metab Dis. 2006;29:281–7.