| DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPD) | |
| THYMINE-URACILURIA, HEREDITARY;5-FLUOROURACIL TOXICITY | |
|
274270
OMIM = Online Mendelian Inheritance of Men | |
|
1675 | |
| Dihydropyrimidine dehydrogenase [NADP(+)] | |
| 1.3.1.2 | |
| rare autosomal recessive mutation in the DPYD gene unexpected severe 5FU toxicity The spectrum of clinical presentations in subjects with the full biochemical phenotype of DPD deficiency ranges from asymptomatic individuals to severely affected patients suffering from seizures, microcephaly, muscular hypotonia, developmental delay and eye abnormalities [Fleger M et al. 2017] | |
| Laboratory findings | 5-Hydroxymethyluracil inc (urine) Thymine inc (plasma) Uracil inc (plasma) Thymine inc (urine) Uracil inc (urine) Uric acid normal/inc (urine) |
| Symptoms | behavior, autism or autistic-like developmental delay eye movements, abnormal microcephaly (<2 SD for age) seizures attention deficit disorder behavior, hyperactive, restless cerebral atrophy cleft eyelid (coloboma) epilepsy hypertonia, spasticity hypotonia intellectual disability/intellectual developmental disorder microphthalmus motor retardation nystagmus optic atrophy white matter changes, abnormalities cognitive impairment corpus callosum, agenesis/hypoplasia EEG abnormalities [-] failure to thrive feeding difficulties, poor feeding growth retardation, poor growth hepatomegaly (large liver) mental retardation MRI, brain, white matter abnormalities [-] no clinical symptoms (probably) onset, adolescent onset, adulthood onset, childhood onset, infancy Organic acids, urine speech development, delayed, abnormal |