| HYPERPHENYLALANINEMIA DUE TO 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY (PTPS) | |
| PHENYLKETONURIA III; BIOPTERIN SYNTHESIS DEFICIENCY; PKU III; PTPS | |
|
261640
OMIM = Online Mendelian Inheritance of Men | |
|
13 | |
| 6-Pyruvoyl tetrahydropterin synthase | |
| 4.2.3.12 | |
| rare autosomal recessive typical and atypical peripheral form relatively common in the Arab population [Almannai M 2019] Diagnosis: BH4-Test normalisation of plasma phenylalanine after BH4 load (20 mg/kg bw) | |
| Laboratory findings | 5-Hydroxyindolacetic acid (5-HIAA) normal/dec (cerebrospinal fluid) Biopterin dec (urine) Prolactin inc (urine) 6-Pyruvoyl tetrahydropterin synthase dec (liver) 6-Pyruvoyl tetrahydropterin synthase dec (erythrocytes) Biopterin inc (cerebrospinal fluid) Biopterin inc (urine) Biopterin normal/dec (cerebrospinal fluid) Homovanillic acid (HVA) dec (cerebrospinal fluid) Neopterin inc (urine) Neopterin inc (cerebrospinal fluid) Phenylalanine inc (plasma) Phenylalanine inc (urine) Tetrahydrobiopterin (BH4) loadingTest (blood) |
| Symptoms | hypotonia mental retardation Amino acids, plasma ataxia basal ganglia, changes, lesions, calcifications (MRI, CT) behavior, self-mutilating or destructive chorea or athetosis decreased hair pigmentation (hypopigmented) drooling early death EEG abnormalities [-] fetal akinesia/hypokinesia sequence fever hypersalivation hyperthermia hypertonia, spasticity irritability learning disability microcephaly (<2 SD for age) MRI, brain, abnormalities [-] MRI, brain, white matter abnormalities [-] neurological deterioration oculogyric crisis onset, infancy onset, neonatal Organic acids, urine pneumonia progressive neurologic defect seizures seizures, myoclonic skin rash, eczematous or seborrhoic small for gestational age (SGA), intrauterine growth retardation (IUGR) swallowing difficulties temperature instability |