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Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth
- Source :
- Mol Genet Metab
- Publication Year :
- 2020
-
Abstract
- BACKGROUND. Pyruvoyl Tetrahydropterin Synthase (PTPS) Deficiency is the most common form of BH4 deficiency resulting in hyperphenylalaninemia. It can have variable clinical severity and there is limited information on the clinical presentation, natural history and effectiveness of newborn screening for this condition. METHODS. Retrospective data (growth and clinical parameters, biochemical and genetic testing results, treatment) were collected from 19 patients with PTPS deficiency in different centers, to evaluate biochemical and clinical outcomes. Descriptive statistics was used for qualitative variables, while linear regression analysis was used to correlate quantitative variables. RESULTS. Patients with PTPS deficiency had an increased incidence of prematurity (4/18) with an average gestational age only mildly reduced (37.8±2.4 weeks) and low birth weight (−1.14±0.97 SD below that predicted for gestational age). With time, weight and height approached normal. values. All patients were identified by newborn screening for an elevated phenylalanine level. However, phenylalanine levels were normal in two whose testing was performed at or before 24 h of age. Sapropterin dihydrochloride treatment normalized phenylalanine levels. Molecular testing identified novel variants in the PTS gene, some of which present in more than one affected family. The neurotransmitter derivatives 5-hydroxyindoleacetic acid (5HIAA) and homovanillic acid (HVA) in the CSF were decreased in most cases except in 2 families with the peripheral form of PTPS deficiency. With time, HVA and 5HIAA became abnormally low in two of these patients requiring therapy. Prolactin (whose secretion is inhibited by dopamine) levels were elevated in several patients with PTPS deficiency and inversely correlated with the z-scores for height (p
- Subjects :
- 0301 basic medicine
Adult
Male
medicine.medical_specialty
Indoles
Adolescent
Endocrinology, Diabetes and Metabolism
Birth weight
Phenylalanine
030105 genetics & heredity
Biochemistry
Article
03 medical and health sciences
0302 clinical medicine
Endocrinology
Hyperphenylalaninemia
Neonatal Screening
Internal medicine
Phenylketonurias
Genetics
medicine
Humans
Child
Molecular Biology
Newborn screening
business.industry
Dopaminergic
Infant, Newborn
Gestational age
Infant
Homovanillic Acid
Tetrahydrobiopterin
medicine.disease
Biopterin
Magnetic Resonance Imaging
Prolactin
Low birth weight
Child, Preschool
Female
medicine.symptom
Phosphorus-Oxygen Lyases
business
030217 neurology & neurosurgery
medicine.drug
Subjects
Details
- ISSN :
- 10967206
- Volume :
- 131
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Molecular genetics and metabolism
- Accession number :
- edsair.doi.dedup.....af25bbada26c8f5177161ee300bb9de0