Inborn errors of metabolism due to defects in intermediary metabolic pathways of carbohydrates, amino acids, & fatty acid oxidation; lead to abnormal organic acid & amino acid accumulation in multiple organs, including brain
Acidemia: Accumulation of acids in blood; aciduria: Urinary excretion of these acids
Urea cycle disorders often discussed along with aminoacidemias
Topaloglu R et al: Do not miss rare and treatable cause of early-onset hemolytic uremic syndrome: cobalamin C deficiency. Nephron. 142(3):258-63, 2019
Wajner M et al: Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: eleven-year experience of a reference center. Genet Mol Biol. 42(1 suppl 1):178-85, 2019
Reddy N et al: Neuroimaging findings of organic acidemias and aminoacidopathies. Radiographics. 38(3):912-31, 2018
Huemer M et al: Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis. 40(1):21-48, 2017
Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. ePub, 2015
Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. ePub, 2015
Wortmann SB et al: Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. Neuropediatrics. 46(2):98-103, 2015
Krishna SH et al: Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders. Semin Ultrasound CT MR. 35(2):160-91, 2014
Makrides V et al: Transport of amino acids in the kidney. Compr Physiol. 4(1):367-403, 2014
Yoon HJ et al: Devastating metabolic brain disorders of newborns and young infants. Radiographics. 34(5):1257-72, 2014
Thomas B et al: MRI of childhood epilepsy due to inborn errors of metabolism. AJR Am J Roentgenol. 194(5):W367-74, 2010
Barbagallo M et al: Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke. Childs Nerv Syst. 25(3):361-5, 2009
Del Balzo F et al: MTHFR homozygous mutation and additional risk factors for cerebral infarction in a large Italian family. Pediatr Neurol. 40(1):63-7, 2009
Gorgone G et al: Hyperhomocysteinemia in patients with epilepsy: does it play a role in the pathogenesis of brain atrophy? A preliminary report. Epilepsia. 50 Suppl 1:33-6, 2009
Bishop L et al: Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria. J Child Neurol. 23(7):823-8, 2008
Ding XQ et al: MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients. J Magn Reson Imaging. 27(5):998-1004, 2008
Indolfi G et al: Cryptogenic stroke in a boy with atrial septal defect and hyperhomocysteinemia. J Child Neurol. 23(9):1070-1, 2008
Shyambabu C et al: Serum vitamin B12 deficiency and hyperhomocystinemia: a reversible cause of acute chorea, cerebellar ataxia in an adult with cerebral ischemia. J Neurol Sci. 273(1-2):152-4, 2008
Thauvin-Robinet C et al: The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum. J Neurol Neurosurg Psychiatry. 79(6):725-8, 2008
van Spronsen FJ et al: The truth of treating patients with phenylketonuria after childhood: the need for a new guideline. J Inherit Metab Dis. 31(6):673-9, 2008
Vatanavicharn N et al: Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report. J Inherit Metab Dis. Epub ahead of print, 2008
Anderson PJ et al: Are neuropsychological impairments in children with early-treated phenylketonuria (PKU) related to white matter abnormalities or elevated phenylalanine levels? Dev Neuropsychol. 32(2):645-68, 2007
Giovannini M et al: Phenylketonuria: dietary and therapeutic challenges. J Inherit Metab Dis. 30(2):145-52, 2007
Leuzzi V 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. 30(2):209-16, 2007
Matthews RG et al: Defects in homocysteine metabolism: diversity among hyperhomocyst(e)inemias. Clin Chem Lab Med. 45(12):1700-3, 2007
Obeid R et al: The role of hyperhomocysteinemia and B-vitamin deficiency in neurological and psychiatric diseases. Clin Chem Lab Med. 45(12):1590-606, 2007
Vermathen P et al: Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging. Magn Reson Med. 58(6):1145-56, 2007
Castro R et al: Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview. J Inherit Metab Dis. 29(1):3-20, 2006
Franco LP et al: Proton MR spectroscopy in hyperhomocysteinemia with elevated blood methionine levels. J Magn Reson Imaging. 23(3):404-7, 2006
Pérez-Dueñas B et al: Global and regional volume changes in the brains of patients with phenylketonuria. Neurology. 66(7):1074-8, 2006
Sinclair AJ et al: Recurrent dystonia in homocystinuria: a metabolic pathogenesis. Mov Disord. 21(10):1780-2, 2006
Wong A et al: Hyperhomocysteinemia is associated with volumetric white matter change in patients with small vessel disease. J Neurol. 253(4):441-7, 2006
Boxer AL et al: Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment. Neurology. 64(8):1431-4, 2005
Braverman NE et al: Characteristic MR imaging changes in severe hypermethioninemic states. AJNR Am J Neuroradiol. 26(10):2705-6, 2005
Duncan IC et al: Spontaneous isolated posterior communicating artery dissection in a young adult with hyperhomocysteinemia. AJNR Am J Neuroradiol. 26(8):2030-2, 2005
Fowler B: Homocysteine: overview of biochemistry, molecular biology, and role in disease processes. Semin Vasc Med. 5(2):77-86, 2005
Herrmann M et al: Homocysteine--a newly recognised risk factor for osteoporosis. Clin Chem Lab Med. 43(10):1111-7, 2005
Kono K et al: Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. Radiology. 236(2):630-6, 2005
Linnebank M et al: Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases. J Inherit Metab Dis. 28(6):1167-8, 2005
Longo D et al: MRI and 1H-MRS findings in early-onset cobalamin C/D defect. Neuropediatrics. 36(6):366-72, 2005
Pfaendner NH et al: MR imaging-based volumetry in patients with early-treated phenylketonuria. AJNR Am J Neuroradiol. 26(7):1681-5, 2005
Ricci D et al: Assessment of visual function in children with methylmalonic aciduria and homocystinuria. Neuropediatrics. 36(3):181-5, 2005
Tallur KK et al: Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings. Dev Med Child Neurol. 47(1):53-6, 2005
Anderson PJ et al: Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities. Dev Med Child Neurol. 46(4):230-8, 2004
Ekinci B et al: Two siblings with homocystinuria presenting with dystonia and parkinsonism. Mov Disord. 19(8):962-4, 2004
Sijens PE et al: 1H MR chemical shift imaging detection of phenylalanine in patients suffering from phenylketonuria (PKU). Eur Radiol. 14(10):1895-900, 2004
Tada H et al: Reversible white matter lesion in methionine adenosyltransferase I/III deficiency. AJNR Am J Neuroradiol. 25(10):1843-5, 2004
Gizewska M et al: Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene. J Intellect Disabil Res. 47(Pt 2):146-52, 2003
Harvey Mudd S et al: Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. Mol Genet Metab. 79(1):6-16, 2003
Kahler SG et al: Metabolic disorders and mental retardation. Am J Med Genet C Semin Med Genet. 117C(1):31-41, 2003
Kirkham FJ: Is there a genetic basis for pediatric stroke? Curr Opin Pediatr. 15(6):547-58, 2003
Kohara K et al: MTHFR gene polymorphism as a risk factor for silent brain infarcts and white matter lesions in the Japanese general population: The NILS-LSA Study. Stroke. 34(5):1130-5, 2003
Moats RA et al: Brain phenylalanine concentrations in phenylketonuria: research and treatment of adults. Pediatrics. 112(6 Pt 2):1575-9, 2003
Sener RN: Phenylketonuria: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy. J Comput Assist Tomogr. 27(4):541-3, 2003
Biancheri R et al: Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features. Epilepsia. 43(6):616-22, 2002
Koch R et al: Phenylketonuria in adulthood: a collaborative study. J Inherit Metab Dis. 25(5):333-46, 2002
Stabler SP et al: Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency. Metabolism. 51(8):981-8, 2002
Akar N et al: Common mutations at the homocysteine metabolism pathway and pediatric stroke. Thromb Res. 102(2):115-20, 2001
Biancheri R et al: Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases. Neuropediatrics. 32(1):14-22, 2001
Dezortová M et al: MR in phenylketonuria-related brain lesions. Acta Radiol. 42(5):459-66, 2001
Phillips MD et al: Diffusion-weighted imaging of white matter abnormalities in patients with phenylketonuria. AJNR Am J Neuroradiol. 22(8):1583-6, 2001
Powers JM et al: Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency. Ann Neurol. 49(3):396-400, 2001
Rossi A et al: Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. AJNR Am J Neuroradiol. 22(3):554-63, 2001
Weglage J et al: Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia. Pediatr Res. 49(4):532-6, 2001
Baethmann M et al: Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency. Neuropediatrics. 31(6):314-7, 2000
Brenton DP et al: Adult care in phenylketonuria and hyperphenylalaninaemia: the relevance of neurological abnormalities. Eur J Pediatr. 159 Suppl 2:S114-20, 2000
Dyer CA: Comments on the neuropathology of phenylketonuria. Eur J Pediatr. 159 Suppl 2:S107-8, 2000
Huttenlocher PR: The neuropathology of phenylketonuria: human and animal studies. Eur J Pediatr. 159 Suppl 2:S102-6, 2000
Koch R et al: Blood-brain phenylalanine relationships in persons with phenylketonuria. Pediatrics. 106(5):1093-6, 2000
Leuzzi V et al: Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria. J Inherit Metab Dis. 23(6):563-70, 2000
Inborn errors of metabolism due to defects in intermediary metabolic pathways of carbohydrates, amino acids, & fatty acid oxidation; lead to abnormal organic acid & amino acid accumulation in multiple organs, including brain
Acidemia: Accumulation of acids in blood; aciduria: Urinary excretion of these acids
Urea cycle disorders often discussed along with aminoacidemias
Topaloglu R et al: Do not miss rare and treatable cause of early-onset hemolytic uremic syndrome: cobalamin C deficiency. Nephron. 142(3):258-63, 2019
Wajner M et al: Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: eleven-year experience of a reference center. Genet Mol Biol. 42(1 suppl 1):178-85, 2019
Reddy N et al: Neuroimaging findings of organic acidemias and aminoacidopathies. Radiographics. 38(3):912-31, 2018
Huemer M et al: Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis. 40(1):21-48, 2017
Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. ePub, 2015
Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. ePub, 2015
Wortmann SB et al: Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. Neuropediatrics. 46(2):98-103, 2015
Krishna SH et al: Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders. Semin Ultrasound CT MR. 35(2):160-91, 2014
Makrides V et al: Transport of amino acids in the kidney. Compr Physiol. 4(1):367-403, 2014
Yoon HJ et al: Devastating metabolic brain disorders of newborns and young infants. Radiographics. 34(5):1257-72, 2014
Thomas B et al: MRI of childhood epilepsy due to inborn errors of metabolism. AJR Am J Roentgenol. 194(5):W367-74, 2010
Barbagallo M et al: Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke. Childs Nerv Syst. 25(3):361-5, 2009
Del Balzo F et al: MTHFR homozygous mutation and additional risk factors for cerebral infarction in a large Italian family. Pediatr Neurol. 40(1):63-7, 2009
Gorgone G et al: Hyperhomocysteinemia in patients with epilepsy: does it play a role in the pathogenesis of brain atrophy? A preliminary report. Epilepsia. 50 Suppl 1:33-6, 2009
Bishop L et al: Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria. J Child Neurol. 23(7):823-8, 2008
Ding XQ et al: MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients. J Magn Reson Imaging. 27(5):998-1004, 2008
Indolfi G et al: Cryptogenic stroke in a boy with atrial septal defect and hyperhomocysteinemia. J Child Neurol. 23(9):1070-1, 2008
Shyambabu C et al: Serum vitamin B12 deficiency and hyperhomocystinemia: a reversible cause of acute chorea, cerebellar ataxia in an adult with cerebral ischemia. J Neurol Sci. 273(1-2):152-4, 2008
Thauvin-Robinet C et al: The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum. J Neurol Neurosurg Psychiatry. 79(6):725-8, 2008
van Spronsen FJ et al: The truth of treating patients with phenylketonuria after childhood: the need for a new guideline. J Inherit Metab Dis. 31(6):673-9, 2008
Vatanavicharn N et al: Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report. J Inherit Metab Dis. Epub ahead of print, 2008
Anderson PJ et al: Are neuropsychological impairments in children with early-treated phenylketonuria (PKU) related to white matter abnormalities or elevated phenylalanine levels? Dev Neuropsychol. 32(2):645-68, 2007
Giovannini M et al: Phenylketonuria: dietary and therapeutic challenges. J Inherit Metab Dis. 30(2):145-52, 2007
Leuzzi V 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. 30(2):209-16, 2007
Matthews RG et al: Defects in homocysteine metabolism: diversity among hyperhomocyst(e)inemias. Clin Chem Lab Med. 45(12):1700-3, 2007
Obeid R et al: The role of hyperhomocysteinemia and B-vitamin deficiency in neurological and psychiatric diseases. Clin Chem Lab Med. 45(12):1590-606, 2007
Vermathen P et al: Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging. Magn Reson Med. 58(6):1145-56, 2007
Castro R et al: Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview. J Inherit Metab Dis. 29(1):3-20, 2006
Franco LP et al: Proton MR spectroscopy in hyperhomocysteinemia with elevated blood methionine levels. J Magn Reson Imaging. 23(3):404-7, 2006
Pérez-Dueñas B et al: Global and regional volume changes in the brains of patients with phenylketonuria. Neurology. 66(7):1074-8, 2006
Sinclair AJ et al: Recurrent dystonia in homocystinuria: a metabolic pathogenesis. Mov Disord. 21(10):1780-2, 2006
Wong A et al: Hyperhomocysteinemia is associated with volumetric white matter change in patients with small vessel disease. J Neurol. 253(4):441-7, 2006
Boxer AL et al: Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment. Neurology. 64(8):1431-4, 2005
Braverman NE et al: Characteristic MR imaging changes in severe hypermethioninemic states. AJNR Am J Neuroradiol. 26(10):2705-6, 2005
Duncan IC et al: Spontaneous isolated posterior communicating artery dissection in a young adult with hyperhomocysteinemia. AJNR Am J Neuroradiol. 26(8):2030-2, 2005
Fowler B: Homocysteine: overview of biochemistry, molecular biology, and role in disease processes. Semin Vasc Med. 5(2):77-86, 2005
Herrmann M et al: Homocysteine--a newly recognised risk factor for osteoporosis. Clin Chem Lab Med. 43(10):1111-7, 2005
Kono K et al: Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. Radiology. 236(2):630-6, 2005
Linnebank M et al: Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases. J Inherit Metab Dis. 28(6):1167-8, 2005
Longo D et al: MRI and 1H-MRS findings in early-onset cobalamin C/D defect. Neuropediatrics. 36(6):366-72, 2005
Pfaendner NH et al: MR imaging-based volumetry in patients with early-treated phenylketonuria. AJNR Am J Neuroradiol. 26(7):1681-5, 2005
Ricci D et al: Assessment of visual function in children with methylmalonic aciduria and homocystinuria. Neuropediatrics. 36(3):181-5, 2005
Tallur KK et al: Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings. Dev Med Child Neurol. 47(1):53-6, 2005
Anderson PJ et al: Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities. Dev Med Child Neurol. 46(4):230-8, 2004
Ekinci B et al: Two siblings with homocystinuria presenting with dystonia and parkinsonism. Mov Disord. 19(8):962-4, 2004
Sijens PE et al: 1H MR chemical shift imaging detection of phenylalanine in patients suffering from phenylketonuria (PKU). Eur Radiol. 14(10):1895-900, 2004
Tada H et al: Reversible white matter lesion in methionine adenosyltransferase I/III deficiency. AJNR Am J Neuroradiol. 25(10):1843-5, 2004
Gizewska M et al: Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene. J Intellect Disabil Res. 47(Pt 2):146-52, 2003
Harvey Mudd S et al: Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. Mol Genet Metab. 79(1):6-16, 2003
Kahler SG et al: Metabolic disorders and mental retardation. Am J Med Genet C Semin Med Genet. 117C(1):31-41, 2003
Kirkham FJ: Is there a genetic basis for pediatric stroke? Curr Opin Pediatr. 15(6):547-58, 2003
Kohara K et al: MTHFR gene polymorphism as a risk factor for silent brain infarcts and white matter lesions in the Japanese general population: The NILS-LSA Study. Stroke. 34(5):1130-5, 2003
Moats RA et al: Brain phenylalanine concentrations in phenylketonuria: research and treatment of adults. Pediatrics. 112(6 Pt 2):1575-9, 2003
Sener RN: Phenylketonuria: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy. J Comput Assist Tomogr. 27(4):541-3, 2003
Biancheri R et al: Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features. Epilepsia. 43(6):616-22, 2002
Koch R et al: Phenylketonuria in adulthood: a collaborative study. J Inherit Metab Dis. 25(5):333-46, 2002
Stabler SP et al: Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency. Metabolism. 51(8):981-8, 2002
Akar N et al: Common mutations at the homocysteine metabolism pathway and pediatric stroke. Thromb Res. 102(2):115-20, 2001
Biancheri R et al: Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases. Neuropediatrics. 32(1):14-22, 2001
Dezortová M et al: MR in phenylketonuria-related brain lesions. Acta Radiol. 42(5):459-66, 2001
Phillips MD et al: Diffusion-weighted imaging of white matter abnormalities in patients with phenylketonuria. AJNR Am J Neuroradiol. 22(8):1583-6, 2001
Powers JM et al: Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency. Ann Neurol. 49(3):396-400, 2001
Rossi A et al: Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. AJNR Am J Neuroradiol. 22(3):554-63, 2001
Weglage J et al: Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia. Pediatr Res. 49(4):532-6, 2001
Baethmann M et al: Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency. Neuropediatrics. 31(6):314-7, 2000
Brenton DP et al: Adult care in phenylketonuria and hyperphenylalaninaemia: the relevance of neurological abnormalities. Eur J Pediatr. 159 Suppl 2:S114-20, 2000
Dyer CA: Comments on the neuropathology of phenylketonuria. Eur J Pediatr. 159 Suppl 2:S107-8, 2000
Huttenlocher PR: The neuropathology of phenylketonuria: human and animal studies. Eur J Pediatr. 159 Suppl 2:S102-6, 2000
Koch R et al: Blood-brain phenylalanine relationships in persons with phenylketonuria. Pediatrics. 106(5):1093-6, 2000
Leuzzi V et al: Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria. J Inherit Metab Dis. 23(6):563-70, 2000
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