Two Filipino patients with 6-pyruvoyltetrahydropterin synthase deficiency / (Record no. 3112)

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control field DOH
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control field 20210227130907.0
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Title Two Filipino patients with 6-pyruvoyltetrahydropterin synthase deficiency /
Statement of responsibility, etc. John Karl L. de Dios, Mary Anne D. Chiong
520 3# - SUMMARY, ETC.
Summary, etc. Hyperphenylalaninemia can result from defects in either the phenylalanine hydroxylase (PAH) enzyme or in the synthesis or recycling of the active pterin, tetrahydrobiopterin (BH4), which is an obligate co-factor for the PAH enzyme, as well as tyrosine hydroxylase and tryptophan hydroxylase. One of the most common causes of BH4 deficiency is a defect in the synthesis of 6-pyruvoyltetrahydropterin synthase (PTPS) enzyme. Patients present with progressive neurological disease such as mental retardation, convulsions and disturbance of tone and posture despite strict adherence to diet and good metabolic control. The authors report the first two cases of PTPS deficiency in the Philippines. Both are females with initial phenylalanine levels of more than 1300 umol/L who continued to develop neurologic deterioration despite good metabolic control and strict adherence to diet. Further investigation showed that they both had PTPS deficiency. Treatment was started with BH4, L-dopa/carbidopa, and 5-hydroxytryptophan (5HT) with concomitant significant improvements in their neurologic and developmental outcomes.
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Linking entry complexity note In: Acta Medica Philippina, 2009 vol 43 (2) pages: 18-21
650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenylketonurias
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Uncontrolled term Hyperphenylalaninemia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Dios, John Karl L.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chiong, Mary Anne D.
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Koha item type Journal Article
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Holdings
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    National Library of Medicine     DOH Central Library DOH Central Library Electronic Resource Section 02/27/2021   J000104 D0001J000104 02/27/2021 02/27/2021 Journal Article