Порушення метаболізму піримідін

Hereditary orotic aciduria (258900*)

Uridine monophosphate synthase

Biochemical profile: Elevated urinary orotate

Clinical features: Megaloblastic anemia, recurrent infections, cellular immunodeficiency, developmental disabilities

Treatment: Uridine, uridylic and cytidylic acid

Dihydropyrimidine dehydrogenase deficiency (274270*)

1. Inborn error form

2. Pharmacogenetic form

Dihydropyrimidine dehydrogenase

Biochemical profile: Elevated urinary uracil, thymine, and 5-hydroxymethyluracil

Clinical features: In inborn error form, growth and developmental delay, seizures, spasticity, microcephaly

In pharmacogenetic form, adverse reactions to 5-flurouracil, including myelosuppression, neurotoxicity, gastrointestinal and skin symptoms, death

Treatment: No specific treatment except for withdrawal of offending medication

Dihydropyrimidinuria (222748*)

Dihydropyrimidinase

Biochemical profile: Elevated urinary dihydrouracil and dihydrothymine

Clinical features: Variable; feeding problems, seizures, lethargy, somnolence, metabolic acidosis

Sometimes benign

Treatment: Not established

Beta-ureidopropionase deficiency (613161*)

Beta-ureidopropionase (beta-alanine synthase)

Biochemical profile: Elevated urinary ureidopropionate and ureidobutyrate

Clinical features: Microcephaly, developmental delay, dystonia, scoliosis

Treatment: Not established

Pyrimidine 5′ nucleotidase deficiency (266120*)

5′-Monophosphate hydrolase

Biochemical profile: No specific profile

Clinical features: Hemolytic anemia, basophilic stippling

Treatment: Supportive care

Activation-induced cytidine deaminase deficiency (hyper IgM syndrome type II; 605257*)

Activation-induced cytidine deaminase

Biochemical profile: High IgM, low to absent IgG and IgA

Clinical features: Recurrent bacterial infections, defective Ig class switching

Treatment: Control of infections