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Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency
- Source :
- Molecular genetics and metabolism. 93(3)
- Publication Year :
- 2007
-
Abstract
- We describe the treatment, the clinical, and biochemical findings and the outcome of 26 patients with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency and 10 patients with dihydropteridine reductase (DHPR) deficiency. These are the two most common forms of the autosomal-recessively inherited tetrahydrobiopterin (BH4) deficiency. Time of diagnosis, dosage of BH4 and neurotransmitter precursors, folinic acid substitution, and levels of 5-hydroxyindoleacetic acid (5HIAA) and homovanillic acid (HVA) in cerebrospinal fluid (CSF) are essential parameters in the follow-up of patients. Unfortunately, treatment protocols vary greatly among patients and clinical centers, and CSF investigations and outcome assessments are not always available. Seventeen patients with PTPS deficiency and four patients with DHPR deficiency were diagnosed within 2 months after birth. In 14 patients with PTPS deficiency (54%; 9 early and 5 late diagnosed) and 2 patients with DHPR deficiency (20%; all early diagnosed) no developmental delay is observed, while in 10 patients with PTPS deficiency (38%; 6 early and 4 late diagnosed) and 8 patients with DHPR deficiency (80%; 2 early and 6 late diagnosed) development was delayed. Two PTPS-deficient patients died in the newborn period. DHPR deficiency seems to be more severe than PTPS deficiency and it is clearly the onset of treatment that determines the outcome. Our data suggest that diagnosis within the first month of life is essential for a good outcome and that low CSF5 HIAA and HVA values in CSF could be an indicator for the ongoing developmental impairment, even in the absence of neurological symptoms.
- Subjects :
- Adult
Male
medicine.medical_specialty
1303 Biochemistry
Adolescent
Endocrinology, Diabetes and Metabolism
Biopterin
610 Medicine & health
BH4
PKU
Neopterin
Biochemistry
Gastroenterology
Folinic acid
chemistry.chemical_compound
Endocrinology
Cerebrospinal fluid
1311 Genetics
Dihydropteridine Reductase
Internal medicine
Phenylketonurias
1312 Molecular Biology
Genetics
medicine
Humans
Child
Molecular Biology
Tetrahydrobiopterin deficiency
business.industry
Homovanillic acid
Infant, Newborn
Homovanillic Acid
Tetrahydrobiopterin
Hydroxyindoleacetic Acid
medicine.disease
1310 Endocrinology
2712 Endocrinology, Diabetes and Metabolism
chemistry
10036 Medical Clinic
Female
Phosphorus-Oxygen Lyases
business
medicine.drug
Follow-Up Studies
Subjects
Details
- ISSN :
- 10967206
- Volume :
- 93
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Molecular genetics and metabolism
- Accession number :
- edsair.doi.dedup.....e2bd304c388821afb72f24968a252492