1993 Fiscal Year Final Research Report Summary
Study on the diagnosis and the treatment of letrahydrobiopterin deficiency
| Project/Area Number |
03670512
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Grant-in-Aid for Scientific Research (C) |
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Principal Investigator |
OWADA Misao NIHON Univ. School of Med., Associate Professor, 医学部, 助教授 (40059506)
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| Co-Investigator(Kenkyū-buntansha) |
YOSHIDA Yasuyoshi NIHON Univ. School of Med., Assistant, 医学部, 助手 (60240321)
SAKIYAMA Takeshi NIHON Univ. School of Med., Instructor, 医学部, 講師 (20130510)
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| Project Period (FY) |
1991 – 1993
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| Keywords | tetrahydrobiopterin (BH_4) / (2) BH_4 deficiency / cerebrospinal fluid (CSF) / BH_4 in CSF / BH_4 therapy |
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| Research Abstract |
Detection of tetrahydrobiopterin (BH_49 deficiency amongnewborn infants with elevated blood phenylalanine (Phe) is required for the early treatment of this disorder. To differentiate BH_4 deficiency from classical phenylketonuria (PKU), analysis of pterin compounds in urine and/or blood is essential. in addition, measurement of pterins in cerebrospinal fluid (CSF) is important for evaluating the effect BH_4 therapy. The Fukushima-Nixon method has been widly used as a method for determination of pterins in body fluid ; however, BH_4 cannot be mesured directly by this method. This method also seems not to be sensitive enough for the determination of pterins in CSF.We have developed a method for dirct determination of BH_4 in urine as well as CSF.By using this method, pterin compounds such as neopterin, biopterin, pterin, BH_2 as well as BH_4 are wel separated and BH_4 was detectable not only in urine specimen but also in CSF from control subject without any pretreatment. In order to make an early diagnosis of BH_4 deficiency in newborn period, this simple and sensitive method is very useful.
In Japan, a method to synthesize R-BH_4 has been developed in recent years, and this product has been used for the treatment of BH_4 deficiency. We have been followed up 4 cases with BH_4 deficiency using the product. To evaluate the BH_4 treatment for the patients, measurement of BH_4 in urine as well as CSF have carried out and this method is also useful for the evaluation of BH_4 therapy.
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