has material basis in germline mutation in DPYS dihydropyrimidinuria https://www.malacards.org/card/dihydropyrimidinase_deficiency MEDGEN:83353 Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity. dihydropyrimidinuria Orphanet:38874 dihydropyrimidinase deficiency MONDO:0009111 SCTID:238014002 DOID:0111629 GARD:0012347 ICD9:277.2 UMLS:C0342803 DPYSD OMIM:222748 inborn disorder of pyrimidine metabolism