Main data
|
|
Molecular genetics
|
|
Lab findings
|
|
Symptoms
|
|
Diet/drugs
|
|
Therapy/development
|
|
References
|
|
Disease information
|
|
Gene information
|
|
Pathway information
|
|
Substance information
|
 Data management
|
|
|
| Patient ID |
230 |
| Diagnosis |
PHENYLKETONURIA (MIM 261600) |
| Gender |
f |
| Age of symptoms onset |
|
| Age of diagnosis |
4.00 Day(s) |
| Found in newborn screening |
y |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Italian, Father: Italian |
| History |
The patient was found in the newborn screening program with blood phenylalanine of 739 micro-mol/l. Although there is no coenzyme deficiency (normal values for neopterin and biopterin in urine, normal dihydropterinereductase activity in red blood cells, normal neurotransmitters in cerebrospinal fluid), BH4-loading resulted in a decrease of blood phenylalanine (s.Figure).
Under normal feeding and BH4 supplementation, the infant is developing normally. IQ of 77 (07/2010). |
|
| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
|
| Date of entry |
2001-07-10 15:29:59 |
|
|
