| HYPERPHENYLALANINEMIA DUE TO DHPR-DEFICIENCY (DHPR) | |
| PHENYLKETONURIA II; PKU II; DIHYDROPTERIDINE REDUCTASE DEFICIENCY; ATYPICAL PKU; DHPR | |
|
261630
OMIM = Online Mendelian Inheritance of Men | |
|
226 | |
| Dihydropteridine reductase | |
| 1.5.1.34 | |
| rare (1:1000000) autosomal recessive mutation in the QDPR gene BH4-Test | |
| Laboratory findings | 5-Hydroxyindolacetic acid (5-HIAA) dec (cerebrospinal fluid) Biopterin normal/inc (urine) Biopterin normal/inc (cerebrospinal fluid) Dihydropteridin reductase dec (liver) Dihydropteridin reductase dec (leucocytes) Dihydropteridin reductase dec (erythrocytes) Dihydropteridin reductase dec (fibroblasts) Homovanillic acid (HVA) normal/dec (cerebrospinal fluid) Neopterin normal (urine) Phenylalanine inc (plasma) Phenylalanine inc (urine) Prolactin inc (plasma) Tetrahydrobiopterin (BH4) loadingTest (blood) |
| Symptoms | CT, brain, abnormalities [-] basal ganglia, changes, lesions, calcifications (MRI, CT) cerebral atrophy chorea or athetosis cortical or cerebral atrophy decreased hair pigmentation (hypopigmented) drooling early death hypotonia intellectual disability/intellectual developmental disorder mental retardation microcephaly (<2 SD for age) pneumonia psychomotor retardation seizures skin rash, eczematous or seborrhoic temperature instability Amino acids, plasma EEG abnormalities [-] EEG, spike waves [-] hypersalivation hyperthermia hypertonia, spasticity irritability lethargy, drowsiness, apathy motor retardation MRI, brain, abnormalities [-] neurological deterioration onset, childhood onset, infancy onset, neonatal pigmentation, skin and sclera progressive neurologic defect seizures, myoclonic |