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Open Access 01-07-2012 | Metabolic Dissertation

Progress in understanding 2-hydroxyglutaric acidurias

Authors: Martijn Kranendijk, Eduard A. Struys, Gajja S. Salomons, Marjo S. Van der Knaap, Cornelis Jakobs

Published in: Journal of Inherited Metabolic Disease | Issue 4/2012

Abstract

The organic acidurias d-2-hydroxyglutaric aciduria (D-2-HGA), l-2-hydroxyglutaric aciduria (L-2-HGA), and combined d,l-2-hydroxyglutaric aciduria (D,L-2-HGA) cause neurological impairment at young age. Accumulation of d-2-hydroxyglutarate (D-2-HG) and/or l-2-hydroxyglutarate (L-2-HG) in body fluids are the biochemical hallmarks of these disorders. The current review describes the knowledge gathered on 2-hydroxyglutaric acidurias (2-HGA), since the description of the first patients in 1980. We report on the clinical, genetic, enzymatic and metabolic characterization of D-2-HGA type I, D-2-HGA type II, L-2-HGA and D,L-2-HGA, whereas for D-2-HGA type I and type II novel clinical information is presented which was derived from questionnaires.

Achouri Y, Noel G, Vertommen D, Rider MH, Veiga-da-Cunha M, Van Schaftingen E (2004) Identification of a dehydrogenase acting on D-2-hydroxyglutarate. Biochem J 381:35–42PubMedCrossRef

Aghili M, Zahedi F, Rafiee E (2009) Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. J Neurooncol 91:233–236PubMedCrossRef

Akaboshi S, Hogema BM, Novelletto A et al (2003) Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat 22:442–450PubMedCrossRef

Amiel J, De Lonlay P, Francannet C et al (1999) Facial anomalies in D-2-hydroxyglutaric aciduria. Am J Med Genet 86:124–129PubMedCrossRef

Baker NS, Sarnat HB, Jack RM, Patterson K, Shaw DW, Herndon SP (1997) D-2-hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscle. J Child Neurol 12:31–36PubMedCrossRef

Barbot C, Fineza I, Diogo L et al (1997) L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients. Brain Dev 19:268–273PubMedCrossRef

Barth PG, Hoffmann GF, Jaeken J et al (1992) L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol 32:66–71PubMedCrossRef

Barth PG, Hoffmann GF, Jaeken J et al (1993) L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inherit Metab Dis 16:753–761PubMedCrossRef

Bayar A, Acun C, Dursun A et al (2005) Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation. Clin Dysmorphol 14:7–11PubMedCrossRef

Chalmers RA, Lawson AM, Watts RW et al (1980) D-2-hydroxyglutaric aciduria: case report and biochemical studies. J Inherit Metab Dis 3:11–15PubMedCrossRef

Clarke NF, Andrews I, Carpenter K, Jakobs C, Van der Knaap MS, Kirk EP (2003) D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses. Am J Med Genet A 120A:523–527PubMedCrossRef

Craigen WJ, Jakobs C, Sekul EA et al (1994) D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction. Pediatr Neurol 10:49–53PubMedCrossRef

da Silva CG, Ribeiro CA, Leipnitz G et al (2002) Inhibition of cytochrome c oxidase activity in rat cerebral cortex and human skeletal muscle by D-2-hydroxyglutaric acid in vitro. Biochim Biophys Acta 1586:81–91PubMedCrossRef

da Silva CG, Bueno AR, Rosa RB et al (2003a) Inhibition of mitochondrial creatine kinase activity by D-2-hydroxyglutaric acid in cerebellum of young rats. Neurochem Res 28:1329–1337PubMedCrossRef

da Silva CG, Bueno AR, Schuck PF et al (2003b) D-2-hydroxyglutaric acid inhibits creatine kinase activity from cardiac and skeletal muscle of young rats. Eur J Clin Invest 33:840–847PubMedCrossRef

da Silva CG, Bueno AR, Schuck PF et al (2003c) L-2-hydroxyglutaric acid inhibits mitochondrial creatine kinase activity from cerebellum of developing rats. Int J Dev Neurosci 21:217–224PubMedCrossRef

da Silva CG, Bueno AR, Schuck PF et al (2004) Inhibition of creatine kinase activity from rat cerebral cortex by D-2-hydroxyglutaric acid in vitro. Neurochem Int 44:45–52PubMedCrossRef

Dancis J, Hutzler J, Ampola MG et al (1983) The prognosis of hyperlysinemia: an interim report. Am J Hum Genet 35:438–442PubMed

Dang L, White DW, Gross S et al (2009) Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 462:739–744PubMedCrossRef

Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK (1980) L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis 3:109–112PubMedCrossRef

Eeg-Olofsson O, Zhang WW, Olsson Y, Jagell S, Hagenfeldt L (2000) D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy. J Child Neurol 15:488–492PubMedCrossRef

Geerts Y, Renier WO, Bakkeren J, de Jong J (1996) 2-Hydroxyglutaric aciduria: a case report on an infant with the D-isomeric form with review of the literature. J Neurol Sci 143:166–169PubMedCrossRef

Gibson KM, Ten Brink HJ, Schor DS et al (1993a) Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res 34:277–280PubMedCrossRef

Gibson KM, Craigen W, Herman GE, Jakobs C (1993b) D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? J Inherit Metab Dis 16:497–500PubMedCrossRef

Gregersen N, Ingerslev J, Rasmussen K (1977) Low molecular weight organic acids in the urine of the newborn. Acta Paediatr Scand 66:85–89PubMedCrossRef

Gross S, Cairns RA, Minden MD et al (2010) Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations. J Exp Med 207:339–344PubMedCrossRef

Haliloglu G, Jobard F, Oguz KK et al (2008) L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings. Neuropediatrics 39:119–122PubMedCrossRef

Haliloglu G, Temucin CM, Oguz KK et al (2009) Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria. J Inherit Metab Dis Short Report #148

Honey EM, Van Rensburg M, Knoll DP, Mienie LJ, Van de Werke I, Beighton P (2003) Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination. Clin Dysmorphol 12:95–99PubMedCrossRef

Jakobs C, Jaeken J, Gibson KM (1993) Inherited disorders of GABA metabolism. J Inherit Metab Dis 16:704–715PubMedCrossRef

James AW, Miranda SG, Culver K, Hall BD, Golabi M (2007) DOOR syndrome: clinical report, literature review and discussion of natural history. Am J Med Genet A 143A:2821–2831PubMedCrossRef

Jequier GM, Roulet-Perez E, Meagher-Villemure K et al (2008) Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria. Eur J Pediatr 168:957–962CrossRef

Junqueira D, Brusque AM, Porciuncula LO et al (2003) Effects of L-2-hydroxyglutaric acid on various parameters of the glutamatergic system in cerebral cortex of rats. Metab Brain Dis 18:233–243PubMedCrossRef

Junqueira D, Brusque AM, Porciuncula LO et al (2004) In vitro effects of D-2-hydroxyglutaric acid on glutamate binding, uptake and release in cerebral cortex of rats. J Neurol Sci 217:189–194PubMedCrossRef

Kamoun P, Richard V, Rabier D, Saudubray JM (2002) Plasma lysine concentration and availability of 2-ketoglutarate in liver mitochondria. J Inherit Metab Dis 25:1–6PubMedCrossRef

Kölker S, Pawlak V, Ahlemeyer B et al (2002) NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria. Eur J Neurosci 16:21–28PubMedCrossRef

Kranendijk M, Salomons GS, Gibson KM et al (2009) Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria. J Inherit Metab Dis 32:713–719PubMedCrossRef

Kranendijk M, Struys EA, Gibson KM et al (2010a) Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Hum Mutat 31:279–283PubMedCrossRef

Kranendijk M, Struys EA, Van Schaftingen E et al (2010b) IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science 330:336PubMedCrossRef

Kranendijk M, Salomons GS, Gibson KM, Van Schaftingen E, Jakobs C, Struys EA (2011) A lymphoblast model for IDH2 gain-of-function activity in D-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies. Biochim Biophys Acta 1812:1380–1384PubMedCrossRef

Kuhara T, Shinka T, Inoue Y et al (1983) Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency. Clin Chim Acta 133:133–140PubMedCrossRef

Kumps A, Duez P, Mardens Y (2002) Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: a comprehensive table. Clin Chem 48:708–717PubMed

Kwong KL, Mak T, Fong CM, Poon KH, Wong SN, So KT (2002) D-2-Hydroxyglutaric aciduria and subdural haemorrhage. Acta Paediatr 91:716–718PubMedCrossRef

Larnaout A, Amouri R, Neji S, Zouari M, Kaabachi N, Hentati F (2007) Osteoma of the calvaria in L-2-hydroxyglutaric aciduria. J Inherit Metab Dis 30:980PubMedCrossRef

Latini A, Scussiato K, Rosa RB et al (2003a) Induction of oxidative stress by L-2-hydroxyglutaric acid in rat brain. J Neurosci Res 74:103–110PubMedCrossRef

Latini A, Scussiato K, Rosa RB et al (2003b) D-2-hydroxyglutaric acid induces oxidative stress in cerebral cortex of young rats. Eur J Neurosci 17:2017–2022PubMedCrossRef

Latini A, da Silva CG, Ferreira GC et al (2005) Mitochondrial energy metabolism is markedly impaired by D-2-hydroxyglutaric acid in rat tissues. Mol Genet Metab 86:188–199PubMedCrossRef

Liang WC, Ohkuma A, Hayashi YK et al (2009) ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord 19:212–216PubMedCrossRef

Mahfoud A, Dominguez CL, Rashed M et al (2009) D-2-hydroxyglutaric aciduria. Invest Clin 50:369–375PubMed

Misra VK, Struys EA, O'Brien W et al (2005) Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. Mol Genet Metab 86:200–205PubMedCrossRef

Moroni I, Bugiani M, D'Incerti L et al (2004) L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition? Neurology 62:1882–1884PubMedCrossRef

Muntau AC, Roschinger W, Merkenschlager A et al (2000) Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics 31:137–140PubMedCrossRef

Nyhan WL, Shelton GD, Jakobs C et al (1995) D-2-hydroxyglutaric aciduria. J Child Neurol 10:137–142PubMedCrossRef

Olsen RK, Olpin SE, Andresen BS et al (2007) ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130:2045–2054PubMedCrossRef

Parsons DW, Jones S, Zhang X et al (2008) An integrated genomic analysis of human glioblastoma multiforme. Science 321:1807–1812PubMedCrossRef

Pervaiz MA, Patterson MC, Struys EA et al (2011) Co-morbidity of Sanfilippo Syndrome type C and D-2-hydroxyglutaric aciduria. J Neurol 258:1564–1565CrossRef

Rakheja D, Mitui M, Boriack RL, Deberardinis RJ (2011) Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors. Pediatr Blood Cancer 56:379–383PubMedCrossRef

Read MH, Bonamy C, Laloum D et al (2005) Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria. J Inherit Metab Dis 28:1149–1150PubMedCrossRef

Rogers RE, Deberardinis RJ, Klesse LJ, Boriack RL, Margraf LR, Rakheja D (2010) Wilms tumor in a child with L-2-hydroxyglutaric aciduria. Pediatr Dev Pathol 13:408–411PubMedCrossRef

Rzem R, Veiga-da-Cunha M, Noel G et al (2004) A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci U S A 101:16849–16854PubMedCrossRef

Rzem R, Van Schaftingen E, Veiga-da-Cunha M (2006) The gene mutated in L-2-hydroxyglutaric aciduria encodes L-2-hydroxyglutarate dehydrogenase. Biochimie 88:113–116PubMedCrossRef

Rzem R, Vincent MF, Van Schaftingen E, Veiga-da-Cunha M (2007) L-2-hydroxyglutaric aciduria, a defect of metabolite repair. J Inherit Metab Dis 30:681–689PubMedCrossRef

Samuraki M, Komai K, Hasegawa Y et al (2008) A successfully treated adult patient with L-2-hydroxyglutaric aciduria. Neurology 70:1051–1052PubMedCrossRef

Saudubray JM, Rabier D (2007) Biomarkers identified in inborn errors for lysine, arginine, and ornithine. J Nutr 137:1669S–1672SPubMed

Sellner L, Capper D, Meyer J et al (2010) Increased levels of 2-hydroxyglutarate in AML patients with IDH1-R132H and IDH2-R140Q mutations. Eur J Haematol 85:457–459PubMedCrossRef

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

Steenweg ME, Jakobs C, Errami A et al (2010) An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat 31:380–390PubMedCrossRef

Struys EA, Jansen EE, Verhoeven NM, Jakobs C (2004a) 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 50:1391–1395PubMedCrossRef

Struys EA, Verhoeven NM, Brunengraber H, Jakobs C (2004b) Investigations by mass isotopomer analysis of the formation of D-2-hydroxyglutarate by cultured lymphoblasts from two patients with D-2-hydroxyglutaric aciduria. FEBS Lett 557:115–120PubMedCrossRef

Struys EA, Korman SH, Salomons GS et al (2005a) Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. Ann Neurol 58:626–630PubMedCrossRef

Struys EA, Salomons GS, Achouri Y et al (2005b) Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet 76:358–360PubMedCrossRef

Struys EA, Verhoeven NM, Ten Brink HJ, Wickenhagen WV, Gibson KM, Jakobs C (2005c) Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias. J Inherit Metab Dis 28:921–930PubMedCrossRef

Struys EA, Verhoeven NM, Salomons GS et al (2006) D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? Mol Genet Metab 88:53–57PubMedCrossRef

Struys EA, Gibson KM, Jakobs C (2007) Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid. J Inherit Metab Dis 30:690–693PubMedCrossRef

Sugita K, Kakinuma H, Okajima Y, Ogawa A, Watanabe H, Niimi H (1995) Clinical and MRI findings in a case of D-2-hydroxyglutaric aciduria. Brain Dev 17:139–141PubMedCrossRef

Talkhani IS, Saklatvala J, Dwyer J (2000) D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis. Skeletal Radiol 29:289–292PubMedCrossRef

Topcu M, Jobard F, Halliez S et al (2004) L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet 13:2803–2811PubMedCrossRef

Topcu M, Aydin OF, Yalcinkaya C et al (2005) L-2-hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr 47:1–7PubMed

Van der Knaap MS, Jakobs C, Hoffmann GF et al (1999a) D-2-hydroxyglutaric aciduria: further clinical delineation. J Inherit Metab Dis 22:404–413PubMedCrossRef

Van der Knaap MS, Jakobs C, Hoffmann GF et al (1999b) D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol 45:111–119PubMedCrossRef

Van Schaftingen E, Rzem R, Veiga-da-Cunha M (2008) L-2-Hydroxyglutaric aciduria, a disorder of metabolite repair. J Inherit Metab Dis 32:135–142PubMedCrossRef

Vilarinho L, Cardoso ML, Gaspar P et al (2005) Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. Hum Mutat 26:395–396PubMedCrossRef

Vissers LE, Fano V, Martinelli D et al (2011) Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Am J Med Genet A 155A:2609–2616PubMed

Wagner L, Hoffmann GF, Jakobs C (1998) D-2-hydroxyglutaric aciduria: evidence of clinical and biochemical heterogeneity. J Inherit Metab Dis 21:247–250PubMedCrossRef

Wajner M, Vargas CR, Funayama C et al (2002) D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findings. J Inherit Metab Dis 25:28–34CrossRef

Wang X, Jakobs C, Bawle EV (2003) D-2-Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage. J Inherit Metab Dis 26:92–94PubMedCrossRef

Ward PS, Patel J, Wise DR et al (2010) The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. Cancer Cell 17:225–234PubMedCrossRef

Wickenhagen WV, Salomons GS, Gibson KM, Jakobs C, Struys EA (2009) Measurement of D-2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D-2-hydroxyglutaric aciduria patients. J Inherit Metab Dis 32:264–268PubMedCrossRef

www.LOVD.nl/L2HGDH (2011) Leiden Open Variation Database - L2HGDH

Xu W, Yang H, Liu Y et al (2011) Oncometabolite 2-Hydroxyglutarate Is a Competitive Inhibitor of alpha-Ketoglutarate-Dependent Dioxygenases. Cancer Cell 19:17–30PubMedCrossRef

Yilmaz K (2009) Riboflavin treatment in a case with L-2-hydroxyglutaric aciduria. Eur J Paediatr Neurol 13:57–60PubMedCrossRef

Zhao S, Lin Y, Xu W et al (2009) Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha. Science 324:261–265PubMedCrossRef

Title: Progress in understanding 2-hydroxyglutaric acidurias
Authors: Martijn Kranendijk
Eduard A. Struys
Gajja S. Salomons
Marjo S. Van der Knaap
Cornelis Jakobs
Publication date: 01-07-2012
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 4/2012
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-012-9462-5

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