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Atypical phenylketonuria due to biopterin deficiency. Early treatment with tetrahydrobiopterin and neurotransmitter precursors, trials of monotherapy.
Helv Paediatr Acta. 1982; 37(5):489-98.HP

Abstract

This report presents the first case where an infant with tetrahydrobiopterin deficiency has been identified by screening of newborns with hyperphenylalaninemia for tetrahydrobiopterin deficiency. Therapy with L-Dopa, 5-hydroxytryptophan, Carbidopa and tetrahydrobiopterin was started at the age of seven weeks while the child received a normal diet. At that time already muscular hypotonia was observed. The girl, now 2 1/2 years old, shows slight muscular hypotonia and hypomotility, short periods of hypertonic extension of the limbs, and retardation of sensomotor and mental development of about 6-8 months. Monotherapy with tetrahydrobiopterin dihydrochloride, 20-40 mg/kg b.w., diminished the muscular hypotonia. The effect lasted however for only about 1 day. While urinary serotonin and phenylalanine remained normal for at least 3 days and neopterin was only slightly elevated, urinary free dopamine however remained low. Similar results were obtained after 1',2'-diacetyl tetrahydrobiopterin dihydrochloride administration, 20 mg/kg b.w.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Clinical Trial
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

6761317

Citation

Endres, W, et al. "Atypical Phenylketonuria Due to Biopterin Deficiency. Early Treatment With Tetrahydrobiopterin and Neurotransmitter Precursors, Trials of Monotherapy." Helvetica Paediatrica Acta, vol. 37, no. 5, 1982, pp. 489-98.
Endres W, Niederwieser A, Curtius HC, et al. Atypical phenylketonuria due to biopterin deficiency. Early treatment with tetrahydrobiopterin and neurotransmitter precursors, trials of monotherapy. Helv Paediatr Acta. 1982;37(5):489-98.
Endres, W., Niederwieser, A., Curtius, H. C., Wang, M., Ohrt, B., & Schaub, J. (1982). Atypical phenylketonuria due to biopterin deficiency. Early treatment with tetrahydrobiopterin and neurotransmitter precursors, trials of monotherapy. Helvetica Paediatrica Acta, 37(5), 489-98.
Endres W, et al. Atypical Phenylketonuria Due to Biopterin Deficiency. Early Treatment With Tetrahydrobiopterin and Neurotransmitter Precursors, Trials of Monotherapy. Helv Paediatr Acta. 1982;37(5):489-98. PubMed PMID: 6761317.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Atypical phenylketonuria due to biopterin deficiency. Early treatment with tetrahydrobiopterin and neurotransmitter precursors, trials of monotherapy. AU - Endres,W, AU - Niederwieser,A, AU - Curtius,H C, AU - Wang,M, AU - Ohrt,B, AU - Schaub,J, PY - 1982/1/1/pubmed PY - 1982/1/1/medline PY - 1982/1/1/entrez SP - 489 EP - 98 JF - Helvetica paediatrica acta JO - Helv Paediatr Acta VL - 37 IS - 5 N2 - This report presents the first case where an infant with tetrahydrobiopterin deficiency has been identified by screening of newborns with hyperphenylalaninemia for tetrahydrobiopterin deficiency. Therapy with L-Dopa, 5-hydroxytryptophan, Carbidopa and tetrahydrobiopterin was started at the age of seven weeks while the child received a normal diet. At that time already muscular hypotonia was observed. The girl, now 2 1/2 years old, shows slight muscular hypotonia and hypomotility, short periods of hypertonic extension of the limbs, and retardation of sensomotor and mental development of about 6-8 months. Monotherapy with tetrahydrobiopterin dihydrochloride, 20-40 mg/kg b.w., diminished the muscular hypotonia. The effect lasted however for only about 1 day. While urinary serotonin and phenylalanine remained normal for at least 3 days and neopterin was only slightly elevated, urinary free dopamine however remained low. Similar results were obtained after 1',2'-diacetyl tetrahydrobiopterin dihydrochloride administration, 20 mg/kg b.w. SN - 0018-022X UR - https://wwww.unboundmedicine.com/medline/citation/6761317/Atypical_phenylketonuria_due_to_biopterin_deficiency__Early_treatment_with_tetrahydrobiopterin_and_neurotransmitter_precursors_trials_of_monotherapy_ L2 - http://www.diseaseinfosearch.org/result/7038 DB - PRIME DP - Unbound Medicine ER -