Glutaric Aciduria Type 1: a Disease That Should Be Considered In The Differential Diagnosis of Macrocephaly
Öz
Glutaric aciduria type 1 is a rare autosomal recessive neurometabolic disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. Excessive levels of these aminoacids and their intermediate breakdown products glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid can accumulate and cause damage to the brain, particularly the basal ganglia, which are regions that help to control movements 1 . Early clinical diagnosis is hampered by the lack of characteristic or even pathognomonic signs and symptoms before an encephalopathic crisis 2 . In this case report, the aim is to emphasize the importance of excluding metabolic diseases in children presenting with macrocephaly
Anahtar Kelimeler
glutaric aciduria type 1 macrocephaly neurometabolic disorders
Kaynakça
- Chow SL, Rohan C, Morris AA. Rhabdomyolysis in glutaric aciduria type I. J Inherit Metab Dis 2003; 26:711-2.
- Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, Cazorla AG, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun J.G, Wilcken B, Hoffmann, GF, Burgard P. Diagnosis and management of glutaric aciduria type I – revised recommendations. J Inherit Metab Dis 2011; 34: 677-94.
- Lindner m, Kölker S, Schulze A, Christensen E, Greenberg CR, Hoffmann GF. Neonatal screening for glutarl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004; 27:851-9.
- Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI. Glutaric aciduria type 1: A common episodic encephalopathy and spastic paralysis in the Amish of Lancaster Country, Pennsylvania. AM J Med Genet 1996; 59:1006-11.
- Greenberg GR, Reimer D, Singal R, Triggs-Raine B, Chudley AE, Dilling LA, Philipps S, Haworth JC, Seargeant LE, Goodman SI. A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type 1. Hum Mol Genet 1995; 4:493-5.
- Bjugstad KB, Goodman SI, Freed CR. J Pediatr 2000;137: 681-6.
- Superti-Furga A, Hoffmann GF. Glutaric aciduria type 1 (glutaryl- CoA-dehydrogenase deficiency): advances and unanswered questions. Eur J Pediatr 1997; 156: 821-8.
- Amir N, Elpeleg ON, Shalev RS, Christensen E. Glutaric aciduria type 1: enzymatic and neuroradiologic investigations in two kindreds. J Pediatr 1989; 114: 983-9.
- Twomey, Eileen EL, Naughten, ER, Donoghue VB, Ryan S. Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol 2003; 33: 823-30.
- Kölker S, Ahlemeyer B, Krieglstein J, Hoffmann GF. Maturation- dependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: a new pathophysiologic approach to glutaryl-CoA- dehydrogenase deficiency. Pediatr Res 2000; 47: 495-503.
- Renner C, Razeghi S, Uberall MA, et al. Clinically asymptomatic glutaric aciduria type 1 in a 4 5/12 year old girl with bilateral temporal arachnoid cysts. J Inherit Metab Dis 1997; 20: 840-1.
- Christensen E. A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: application in the genotyping of the glutaryl-CoA dehydrogenase locus. Clin Chim Acta 1993; 220: 71-80.
- Kölker S, Christensen E, Leonard JV, et al. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency glutaric aciduria type 1. J Inherit Metab Dis 2007; 30: 5-22.
- Jones KL, Smith’s Recognizable Patterns of Human Malformation, 6th edition. WB Saunders Company, Philadelphia 2006: 871-2.
- Sandler AD, Knudsen MW, Brown TT et al. Neurodevelopmental dysfunctionamong nonreferred children with idiopathic megalencephaly. J Pediatr 1997; 131:320-4.
- Almgren M, Schalling M, Lavebratt C. Idiopathic megalencephaly- possible cause and treatment opportunities: From patient to lab. European Journal of Paediatric Neurology; 2008; 12: 438-45.
- Liptak GS. Hydrocephalus. Pediatric Clinical Advisor - Instant diagnosis and treatment. 2nd edition, United States: Mosby Publications, 2007;281-2.
- Alvarez LA, Maytal J, Shinnar S. Idiopathic external hydrocephalus: Natural history and relationship to benign familial macrocephaly. Pediatrics 1986; 77: 901-7.
- McCaffery P, Deutsch CK. Macrocephaly and the control of brain growth in autistic disorders. Progress in Neurobiology 2005; 77: 38-56.
- Sener RN: Canavan disease: Diffusion magnetic resonance imaging findings. J Comput Assist Tomogr 2003; 27: 30-3.
- Hess DC, Fischer AQ, Yaghmai F, et al: Comparative neuroimaging with pathological correlates in Alexander’s disease. J Child Neurol 1990; 5: 248-52.
Öz
Glutarik asidüri tip 1, otozomal resesif geçiş gösteren ender bir nörometabolik hastalıktır. Lizin, hidroksilizin ve triptofan metabolizmasındaki glutaril-koenzim A dehidrogenaz enzim aktivitesinin eksikliğine bağlı olarak ortaya çıkar. Bu aminoasitlerin ve kısmen yıkılan ara ürünlerinin glutarik asit, glutaril-koenzim A, 3-hidroksiglutarik asit, glutakonik asit artışı, beyinde özellikle hareket kontrolü ile görevli bazal ganglionlarda birikerek hasara yol açar 1 . Ensefalopatik kriz öncesinde karakteristik veya patognomonik belirti ve semptomların olmaması erken klinik tanıyı zorlaştırır 2 . Bu olgu sunumunda amaç makrosefalik seyreden hastalara ailesel makrosefali tanısı koymadan önce metabolik hastalıkların dışlanmasının önemini vurgulamaktır
Anahtar Kelimeler
glutarik asidüri tip 1 makrosefali nörometabolik hastalıklar
Kaynakça
- Chow SL, Rohan C, Morris AA. Rhabdomyolysis in glutaric aciduria type I. J Inherit Metab Dis 2003; 26:711-2.
- Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, Cazorla AG, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun J.G, Wilcken B, Hoffmann, GF, Burgard P. Diagnosis and management of glutaric aciduria type I – revised recommendations. J Inherit Metab Dis 2011; 34: 677-94.
- Lindner m, Kölker S, Schulze A, Christensen E, Greenberg CR, Hoffmann GF. Neonatal screening for glutarl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004; 27:851-9.
- Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI. Glutaric aciduria type 1: A common episodic encephalopathy and spastic paralysis in the Amish of Lancaster Country, Pennsylvania. AM J Med Genet 1996; 59:1006-11.
- Greenberg GR, Reimer D, Singal R, Triggs-Raine B, Chudley AE, Dilling LA, Philipps S, Haworth JC, Seargeant LE, Goodman SI. A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type 1. Hum Mol Genet 1995; 4:493-5.
- Bjugstad KB, Goodman SI, Freed CR. J Pediatr 2000;137: 681-6.
- Superti-Furga A, Hoffmann GF. Glutaric aciduria type 1 (glutaryl- CoA-dehydrogenase deficiency): advances and unanswered questions. Eur J Pediatr 1997; 156: 821-8.
- Amir N, Elpeleg ON, Shalev RS, Christensen E. Glutaric aciduria type 1: enzymatic and neuroradiologic investigations in two kindreds. J Pediatr 1989; 114: 983-9.
- Twomey, Eileen EL, Naughten, ER, Donoghue VB, Ryan S. Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol 2003; 33: 823-30.
- Kölker S, Ahlemeyer B, Krieglstein J, Hoffmann GF. Maturation- dependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: a new pathophysiologic approach to glutaryl-CoA- dehydrogenase deficiency. Pediatr Res 2000; 47: 495-503.
- Renner C, Razeghi S, Uberall MA, et al. Clinically asymptomatic glutaric aciduria type 1 in a 4 5/12 year old girl with bilateral temporal arachnoid cysts. J Inherit Metab Dis 1997; 20: 840-1.
- Christensen E. A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: application in the genotyping of the glutaryl-CoA dehydrogenase locus. Clin Chim Acta 1993; 220: 71-80.
- Kölker S, Christensen E, Leonard JV, et al. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency glutaric aciduria type 1. J Inherit Metab Dis 2007; 30: 5-22.
- Jones KL, Smith’s Recognizable Patterns of Human Malformation, 6th edition. WB Saunders Company, Philadelphia 2006: 871-2.
- Sandler AD, Knudsen MW, Brown TT et al. Neurodevelopmental dysfunctionamong nonreferred children with idiopathic megalencephaly. J Pediatr 1997; 131:320-4.
- Almgren M, Schalling M, Lavebratt C. Idiopathic megalencephaly- possible cause and treatment opportunities: From patient to lab. European Journal of Paediatric Neurology; 2008; 12: 438-45.
- Liptak GS. Hydrocephalus. Pediatric Clinical Advisor - Instant diagnosis and treatment. 2nd edition, United States: Mosby Publications, 2007;281-2.
- Alvarez LA, Maytal J, Shinnar S. Idiopathic external hydrocephalus: Natural history and relationship to benign familial macrocephaly. Pediatrics 1986; 77: 901-7.
- McCaffery P, Deutsch CK. Macrocephaly and the control of brain growth in autistic disorders. Progress in Neurobiology 2005; 77: 38-56.
- Sener RN: Canavan disease: Diffusion magnetic resonance imaging findings. J Comput Assist Tomogr 2003; 27: 30-3.
- Hess DC, Fischer AQ, Yaghmai F, et al: Comparative neuroimaging with pathological correlates in Alexander’s disease. J Child Neurol 1990; 5: 248-52.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Mart 2013 |
| Yayımlandığı Sayı | Yıl 2013Sayı: 1 |