Malattia delle urine a sciroppo d'acero

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Malattia delle urine a sciroppo d'acero
Struttura chimica dell'isoleucina che, insieme leucina e valina, è coinvolta nella patogenesi della malattia
Malattia rara
Cod. esenz. SSNRCG040
Specialitàendocrinologia
Classificazione e risorse esterne (EN)
OMIM248600, 246900 e 615135
MeSHD008375
MedlinePlus000373
eMedicine946234
Sinonimi
Leucinosi
Chetoaciduria a catena ramificata
Deficit di chetoacidodeidrogenasi a catena ramificata
Eponimi
sciroppo d'acero
Modifica dati su Wikidata · Manuale

La malattia delle urine a sciroppo d'acero (MSUD, dall'acronimo in lingua inglese per maple syrup urine disease), chiamata anche chetoaciduria a catena ramificata, leucinosi e deficit di chetoacidodeidrogenasi a catena ramificata, è una malattia genetica a trasmissione autosomica recessiva facente parte dei disturbi congeniti del metabolismo[1]. L'alterazione riguarda il metabolismo degli aminoacidi a catena ramificata; è un'acidosi organica[2] e prende il nome dal caratteristico odore delle urine nei soggetti colpiti[3].

Eziopatogenesi

La malattia è causata da una carenza dell'enzima alfa-chetoacido deidrogenasi a catena ramificata che genera un accumulo nel sangue e nelle urine di aminoacidi a catena ramificata, ovvero leucina, isoleucina e valina, e dei chetoacidi prodotti dal loro metabolismo[3].

Il complesso enzimatico consta di quattro subunità designate E1α, E1β, E2 ed E3, con quest'ultima che è anche un componente del complesso della piruvato deidrogenasi e della chetoglutarato deidrogenasi[4]. La malattia deriva da mutazioni presenti in ciascuno dei geni che codificano per le subunità enzimatiche.

Clinica

Lo stesso argomento in dettaglio: Sotolone.

Prima dell'introduzione di specifiche indagini, con identificazione dei pazienti tramite valutazione della concentrazione plasmatica degli aminoacidi coinvolti, la diagnosi era comunemente fatta sulla base del quadro clinico. Il composto responsabile per l'odore delle urine è il sotolone.

I bambini affetti sembrano sani alla nascita ma, se non trattati, vanno incontro a gravi danni cerebrali e al decesso. Dalla prima infanzia la malattia si presenta con scarsa alimentazione, vomito, disidratazione, letargia, ipotonia, convulsioni, ipoglicemia, chetoacidosi, opistotono, episodi di pancreatite e, alla fine, coma e declino neurologico.

Note

  1. ^ F. Podebrad, M. Heil; S. Reichert; A. Mosandl; AC. Sewell; H. Böhles, 4,5-dimethyl-3-hydroxy-2[5H]-furanone (sotolone)--the odour of maple syrup urine disease., in J Inherit Metab Dis, vol. 22, n. 2, Apr 1999, pp. 107-14, PMID 10234605.
  2. ^ H. Ogier de Baulny, JM. Saudubray, Branched-chain organic acidurias., in Semin Neonatol, vol. 7, n. 1, febbraio 2002, pp. 65-74, DOI:10.1053/siny.2001.0087, PMID 12069539.
  3. ^ a b Maple syrup urine disease, in Genetics Home Reference. URL consultato il 5 dicembre 2013.
  4. ^ Pasquali, Longo, pp. 2062, 2011.

Bibliografia

  • Longo D.L. , Fauci A.S. , Kasper D.L. , Hauser S.L., Harrison - Principi di medicina interna, 16ª ed., Milano, McGraw-Hill, 2005, ISBN 88-386-2999-4.
  • Vinay Kumar, Abul K. Abbas, Nelson Fausto, Robbins e Cotran. Le basi patologiche delle malattie, Milano, Elsevier Italia, 2006, ISBN 88-85675-53-0.
  • Marzia Pasquali, Nicola Longo, Newborn screening and inborn errors of metabolism, in Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, 5ª ed., Elsevier Health Sciences, 2011, ISBN 978-1-4160-6164-9.

Collegamenti esterni

Controllo di autoritàGND (DE) 4217419-3
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