Clinical characterization of tremor in patients with phenylketonuria.
Mol Genet Metab
; 128(1-2): 53-56, 2019.
Article
em En
| MEDLINE
| ID: mdl-31208951
ABSTRACT
BACKGROUND:
Phenylketonuria (PKU) is due to the deficit of the enzyme phenylalanine hydroxylase, the first step of dopamine synthesis. If not early treated the disease results in severe neurological impairment. Minor neurological signs have been reported in early treated PKU (ETPKU) subjects. Prolactin level is affected by (and reflects) brain dopamine availability. Object of the study was to assess the occurrence, age at onset, distribution, associated neurological signs, and possible pathogenetic biomarkers of tremor in ETPKU.METHODS:
Fifty-nine ETPKU and 43 control subjects (age range 7-54) underwent individual and familiar tremor history, clinical assessment of tremor by means of the Fahn-Tolosa-Marin Tremor Rating Scale, and IQ evaluation. Historical and concomitant biochemical data (blood levels of Phe) and serum prolactin were included in the analysis.RESULTS:
Thirty-two percent of ETPKU patients were affected by postural and kinetic tremor. We found a significant correlation between severity of tremor and prolactin level at the day of examination (part A rsâ¯=â¯0.320; pâ¯=â¯.014; part C rsâ¯=â¯0.319; pâ¯=â¯.014), Phe fluctuations from 12â¯years onwards (part B rsâ¯=â¯0.300; pâ¯=â¯.036). We also found a significant correlation between prolactin (18.2⯱â¯9.6â¯ng/ml) and Phe levels (852⯱â¯472⯵mol/l) on the day of assessment (rsâ¯=â¯0.470; pâ¯<â¯.001).CONCLUSIONS:
The main clinical features of tremor in ETPKU evoke those of essential tremor, although with a higher prevalence and an earlier onset than in general population. The severity of tremor was related to concomitant prolactin rather than Phe levels. This pattern suggests that metabolic alterations associated with PKU may result in an anticipation of the tremor onset in subjects who are possibly prone to this disorder.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenilcetonúrias
/
Tremor
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prevalence_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Mol Genet Metab
Assunto da revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Itália