Evaluation of patients with phenylalanine metabolism disorder: a single center experience.
J Pediatr Endocrinol Metab
; 35(4): 463-467, 2022 Apr 26.
Article
in En
| MEDLINE
| ID: mdl-35084144
ABSTRACT
AIM:
The aim is to evaluate the clinical, demographic and laboratory data of the patients we followed up with phenylalanine metabolism disorder. MATERIALS ANDMETHODS:
In this study, patients with phenylalanine metabolism disorder who applied to Bursa Uludag University Faculty of Medicine, Department of Pediatrics, Pediatric Metabolism Department between 2011 and 2021 were retrospectively examined. The files of 397 patients who were followed up in our pediatric metabolism outpatient clinic and were found to have phenylalanine metabolism disorder by plasma phenylalanine level and molecular genetic analysis were evaluated.RESULTS:
According to the highest plasma phenylalanine levels at admission, mild hyperphenylalaninemia phenotype constituted the largest group of 397 patients with 282 cases (71.1%), while the least common phenotype was malignant phenylketonuria (BH4 metabolism disorder) with four patients (1.0%). The number of patients with classical phenylketonuria was 90 (22.6%). 61 (62.8%) of 97 phenylalanine metabolism disorder cases who underwent BH4 loading test had a response. The mean phenylalanine level of the patients was 3.62 ± 1.31 mg/dL in mild hyperphenylalaninemia, 7.98 ± 3.99 mg/dL in mild phenylketonuria and 11.71 ± 4.39 mg/dL in classical phenylketonuria. While 241 (76%) of 317 patients younger than 8 years old were in the well-controlled group, 76 (24%) were in the poorly-controlled group. While 41 (53.9%) of 76 patients older than 8 years of age were in the well-controlled group, 35 (46.1%) were in the poorly-controlled group.CONCLUSIONS:
In our study, the largest patient group consisted of patients with mild hyperphenylalaninemia, and the least common phenotype was mild phenylketonuria.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenylalanine Hydroxylase
/
Phenylketonurias
Type of study:
Observational_studies
Limits:
Child
/
Humans
Language:
En
Journal:
J Pediatr Endocrinol Metab
Journal subject:
ENDOCRINOLOGIA
/
PEDIATRIA
Year:
2022
Document type:
Article
Affiliation country:
Turkey
Publication country:
ALEMANHA
/
ALEMANIA
/
DE
/
DEUSTCHLAND
/
GERMANY