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    <pre style="white-space:pre-line"><code>Tabella: difetti congeniti del metabolismo delle purine e delle pirimidine

Difetto enzimatico             Locus genico              Caratteristiche           Raccomandazioni
                                                         principali                vaccinali
Deficit di P5â€™N-1 (uridin-     Malattia autosomica
monofosfato idrolasi-1)        recessiva,                Anemia emolitica,         Procedere secondo
                               gene coinvolto situato    emoglobinuria,            calendario vaccinale
Aciduria orotica ereditaria    sul cromosoma 7,          splenomegalia, ritardo    completo
(deficit di uridin 5-          difetto del gene          psicomotorio
monofosfato sintetasi          dellâ€™enzima uridin-
UMP)                           monofosfato idrolasi-1    Ritardo                   Procedere secondo
                                                         psicomotorio,anemia,      calendario vaccinale
Deficit di adenilsuccinasi     Malattia autosomica                                 completo, potrebbe
                               recessiva,                leucopenia, anomalie      essere necessario un
Deficit combinato della        gene coinvolto situato    dellâ€™immunitÃ  cellulo     follow up per valutare la
xantino-ossidasi e della       sul cromosoma 3q13,       mediata, midollo osseo    risposta alle vaccinazioni
solfito ossidasi (deficit del  difetto del gene          megaloblastico
fattore molibdeno)             dellâ€™enzima uridin 5-
                               monofosfato sintetasi     Ritardo psicomotorio,     Procedere secondo
Deficit della                  (UMP)                     convulsioni, aspetti      calendario vaccinale
diidropirimidina                                         autistici, distrofia      completo
deidrogenasi (DPD)             Malattia autosomica       muscolare,
                               recessiva,                compromissione            Procedere secondo
                               gene coinvolto situato    respiratoria              calendario vaccinale
                               sul cromosoma 22,                                   completo
                               difetto del gene          Convulsioni tonico-
                               dellâ€™enzima               cloniche neonatali,
                               adenilsuccinasi liasi     ipotonia, progressione
                                                         verso il ritardo mentale
                               Malattia autosomica       grave,compromissione
                               recessiva,                respiratoria
                               gene coinvolto situato
                               sul cromosoma 6,          PuÃ² essere                Procedere secondo
                               difetto del gene          asintomatica, ritardo     calendario vaccinale
                               dellâ€™enzima per la        dello sviluppo,           completo
                               biosintesi del cofattore  microcefalia, ipertonia,
                               contenete molibdeno       convulsioni,
                                                         compromissione
                               Malattia autosomica       respiratoria
                               recessiva,
                               gene coinvolto situato
                               sul cromosoma 1,
                               difetto del gene
                               dellâ€™enzima della
                               diidropirimidina
                               deidrogenasi (DPD)

Tratto da J. D. Kingsley, et all. Immunizations for Patients With Metabolic Disorders. Pediatrics 2006.187

                                                                                                            164</code></pre>
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