Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.
Deficiency of dihydropteridine reductase causes a variant form of phenylketonuria associated with a devastating neurological disease characterized by mental retardation, hypokinesis and other features relating to basal ganglia disorder. Hyperphenylalaninaemias with tetrahydrobiopterin deficiency make up about 1-3% of all hyperphenylalaninaemias. We describe three patients from Calabria, a southern region of Italy, who have a dihydropteridine reductase deficiency, caused by the same mutation (p.L14P) also found in the nearby region of Sicily. We report the evolution of clinical and biochemical data during the treatment of these patients where we used prolactin serum determination to adapt the specific therapy. This report suggests that serum prolactin levels can be a good biomarker for optimal dosage of hydroxylated precursors in long-term treatment monitoring.
Concolino
D
D
Department of Pediatrics, University Magna Graecia of Catanzaro, c/o Ospedale Civile A. Pugliese, Viale Pio X, 88100, Catanzaro, Italy. dconcolino@unicz.it
Muzzi
G
G
Rapsomaniki
M
M
Moricca
M T
MT
Pascale
M G
MG
Strisciuglio
P
P
D006916:5-Hydroxytryptophan / Q000008:administration & dosage; D065105:Aromatic Amino Acid Decarboxylase Inhibitors; D015415:Biomarkers / Q000097:blood; D002230:Carbidopa / Q000008:administration & dosage; D002675:Child, Preschool; D004044:Dietary Proteins / Q000008:administration & dosage; D004093:Dihydropteridine Reductase / Q000097:blood / Q000235:genetics*; D004296:Dopa Decarboxylase / Q000378:metabolism; D015259:Dopamine Agents / Q000008:administration & dosage*; D016903:Drug Monitoring / Q000379:methods*; D004359:Drug Therapy, Combination; D004791:Enzyme Inhibitors / Q000008:administration & dosage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy; D007980:Levodopa / Q000008:administration & dosage; D008996:Monoamine Oxidase Inhibitors / Q000008:administration & dosage; D009154:Mutation; D015997:Neonatal Screening; D009460:Neurologic Examination; D010641:Phenotype; D010661:Phenylketonurias / Q000097:blood / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D011388:Prolactin / Q000097:blood*; D012642:Selegiline / Q000008:administration & dosage; D013997:Time Factors; D016896:Treatment Outcome
D065105:Aromatic Amino Acid Decarboxylase Inhibitors; D015415:Biomarkers; D004044:Dietary Proteins; D015259:Dopamine Agents; D004791:Enzyme Inhibitors; D008996:Monoamine Oxidase Inhibitors; D012642:Selegiline; D007980:Levodopa; D011388:Prolactin; D006916:5-Hydroxytryptophan; D004093:Dihydropteridine Reductase; D004296:Dopa Decarboxylase; D002230:Carbidopa