Capitolo 85 Disturbi del metabolismo degli amminoacidi - Doctor33

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586 ■ PARTE X ■ Malattie metaboliche glutammico prende il posto dell’alanina. La seconda mutazione è invece responsabile del 13% dei 100 alleli mutanti esaminati, è di tipo nonsense e causa un’interruzione della sequenza di codifi ca della tirosina (Y231X). Nella popolazione generale si riscontra una più ampia variabilità delle mutazioni, mentre le due descritte sono rare. Nei pazienti non ebrei, la mutazione (A305E), sostituzione di alanina con acido glutammico, è responsabile del 40% dei 62 alleli mutanti. Insieme alla diagnosi di malattia di Canavan è importante ottenere una diagnosi molecolare, in modo da garantire alla famiglia un accurato counseling. Se le mutazioni non sono note, la diagnosi prenatale si affi da sul livello di acido N-acetilaspartico nel liquido amniotico. Nei pazienti ebrei la frequenza dei portatori può raggiungere 1:36 (analoga a quella della malattia di Tay-Sachs), perciò è opportuno lo screening. Trattamento e prevenzione. Non è disponibile alcun trattamento specifi co. I disturbi dell’allattamento e le convulsioni vanno trattati su base individuale. Il couseling genetico, l’individuazione dei portatori e la diagnosi prenatale costituiscono gli unici metodi di prevenzione. L’iniezione nei ventricoli di liposomi con il gene per l’aspartoaciclasi umana è stata realizzata su due bambini con malattia di Canavan, ma i risultati non sono incoraggianti. Generale Crombez E, Koch R, Cederbaum S: Pitfalls in newborn screening. J Pediatr 2005;147:119–120. Holtzman NA: Expanding newborn screening. JAMA 2003;290:2606–2608. McKusick VA: Online Mendelian Inheritance in Man (OMIM). Available at www.ncbi.nlm.nih. gov/entrez/query.fcgi?db-omim Morioka D, Kasahara M, Takada Y, et al: Living donor liver transplantation for pediatric patients with inheritable metabolic disorders. Am J Transplant 2005;11:2754–2763. Natowicz M: Newborn screening—Setting evidence-based policy for protection. N Engl J Med 2005;353:867–870. Schulz A, Lindner M, Kohlmuller D, et al: Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Results, outcome, and implications. Pediatrics 2003;11: 1399–1406. Scriver CR, Beaudet AL, Valle D, et al (eds): The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York, McGraw-Hill, 2001. Waisbren SE, Albers S, Amato S, et al: Effect of expanded newborn screening for biomedical genetic disorders on child outcomes and parental stress. JAMA 2003;290:2564–2572. Fenilalanina Blau N, Koch R, Matalon R, et al: New development in phenylketonuria and tetrahydrobiopterin research. Mol Genet Metab (Suppl 1) 2005;86: 1–156. Blau N, Seriver Cr: New approaches to treat PKU: How far are we? Mol Genet Metab 2004;81:1–2. Crone Mr, van Spronsen FJ, Oudshoom K, et al: Behavioural factors related to metabolic control in patients with phenylketonuria. J Inherit Metab Dis 2005;28:627–637. 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Page 1 and 2: PERIODO POSTNEONATALE . La maggior
Page 3 and 4: da un defi cit della fenilalanina i
Page 5 and 6: insorgere cirrosi epatica e carcino
Page 7 and 8: TABELLA 85-1. Classifi cazione dell
Page 9 and 10: vit B* 12 5,10-Metilene FH4 Tetraid
Page 11 and 12: sui livelli plasmatici di omocistei
Page 13 and 14: Assenza di manifestazioni cutanee C
Page 15 and 16: esfoliazione e alopecia (parziale o
Page 17 and 18: direzione e sintetizza questi compo
Page 19 and 20: ambino può presentare ritardo ment
Page 21 and 22: I reperti neurologici sono più evi
Page 23 and 24: Iperossaluria primaria di tipo I. Q
Page 25 and 26: Figura 85-10. Vie metaboliche della
Page 27 and 28: GAD (GAD 65 e GAD67). GAD67 è il p
Page 29 and 30: A B Capitolo 85 ■ Disturbi del me
Page 31 and 32: di CPS e NAG sintetasi, mediante la
Page 33 and 34: torio rivelano marcata iperammoniem
Page 35: In questi pazienti sono state segna

Capitolo 85 Disturbi del metabolismo degli amminoacidi - Doctor33

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