ᖹᡂ 25 ᖺᗘȱ ཌ⏕ປാ⛉Ꮫ◊✲㈝⿵ຓ㔠㸦ᡂ⫱⑌ᝈඞ᭹➼ḟୡ௦⫱ᡂᇶ┙◊✲஦ᴗ㸧ȱࠕ௒ᚋࡢᑠඣ៏ᛶ≉ᐃ⑌ᝈ἞⒪◊✲஦ᴗࡢ࠶ࡾ᪉࡟㛵ࡍࡿ◊✲ࠖȱศᢸ◊✲ሗ࿌᭩ ȱȱ᪂⏕ඣ࣐ࢫ㺃ࢫࢡ࣮ࣜࢽࣥࢢᑐ㇟⑌ᝈࡢデ⒪ࢥࣥࢧࣝࢸ࣮ࢩࣙࣥయไࡢᵓ⠏ȱȱ◊✲ศᢸ⪅ ᒣཱྀȱ Ύḟ㸦ᓥ᰿኱Ꮫ་Ꮫ㒊ȱ ᑠඣ⛉ᩍᤵ㸧ȱȱ◊✲せ᪨ 2014 ᖺ᫓࠿ࡽ඲ᅜⓗ࡟ᑟධࡉࢀࡿࢱࣥࢹ࣒࣐ࢫἲࢆ⏝࠸ࡓ᪂⏕ඣ࣐ࢫ㺃ࢫࢡ࣮ࣜࢽࣥࢢ࡛ࡣࠊᑐ㇟࡜࡞ࡿ⑌ᝈࡀ㉸⛥ᑡ⑌ᝈ࡛࠶ࡿ஦࡞࡝࠿ࡽࠊ㝧ᛶ౛ࡀฟࡓ࡜ࡁ࡟㏿ࡸ࠿࡞デ᩿࣭἞⒪ࡢᥦ౪ࡀ㞴ࡋࡃࠊ㞀ᐖண㜵ࢆ┠ⓗ࡜ࡍࡿᮏ஦ᴗࡢ┠ⓗࡀ㐩ᡂࡉࢀ࡞࠸஦ࡶᠱᛕࡉࢀ࡚࠸ࡿࠋᮏ◊✲࡛ࡣࠊ᪂⏕ඣ࣐ࢫ㺃ࢫࢡ࣮ࣜࢽࣥࢢ࡟㛵ࡍࡿデ᩿࣭἞⒪ࡢᥦ౪ࠊ࠾ࡼࡧ᳨ᰝ᪋タ࡟ࡼࡿᏳᐃࡋࡓศᯒࢆᨭ᥼ࡍࡿᡭẁ࡜ࡋ࡚ࠊࡑࢀࡒࢀ࡟ࢥࣥࢧࣝࢸ࣮ࢩࣙࣥయไࢆᵓ⠏ࡋࡓࠋȱࢥࣥࢧࣝࢸ࣮ࢩࣙࣥࡢᐇ㝿ࡣࠊࡲࡎࢥ࣮ࣝࢭࣥࢱ࣮࡛㉁ၥࢆཷࡅ௜ࡅࠊᮏ◊✲࡛సᡂࡋࡓ୍ḟᑐᛂ࣐ࢽࣗ࢔ࣝ࡟ࡼࡿᑐᛂࢆ⾜࠺ࠋᑐᛂࡀ㞴ࡋ࠸ሙྜࡣෆᐜࢆ☜ㄆᩚ⌮ࡋࠊ㛵㐃Ꮫ఍࠿ࡽ᥎⸀ࢆ࠺ࡅ௵࿨ࢆࡋࡓࢥࣥࢧࣝࢸ࢕ࣥࢢ་ᖌ㸦12 ྡ㸧࣭ᢏ⾡⪅㸦4 ྡ㸧ࡀࢥ࣮ࣝࢭ
ࣥࢱ࣮ࢆ௓ࡋ࡚㉁ၥࢆཷࡅ௜ࡅࡿ஦࡜ࡋࡓࠋࡲࡓࠊᨭ᥼యไࡢ୍ࡘ࡜ࡋ࡚་⒪㛵ಀ⪅⏝ࠊᕷẸ⏝ࡢ࣮࣒࣮࣍࣌ࢪࢆసᡂࡋࠊࢱࣥࢹ࣒࣐ࢫἲ࡟㛵ࡍࡿ᝟ሗᥦ౪ࡢᡭẁ࡜ࡋࡓࠋᮏ◊✲ࡢྲྀࡾ⤌ࡳ࡟ࡼࡗ࡚ࠊࢱࣥࢹ࣒࣐ࢫἲࡀᑟධࡉࢀࡓ᪂⏕ඣ MS ࡢయไ࡟࠾࠸࡚ࡶデ᩿࣭἞⒪࣭ศᯒ࡞࡝࡟㛵ࡍࡿ୙Ᏻࡸືᦂࡀ᭱ᑠ㝈࡟࡞ࡿ஦ࡀᮇᚅࡉࢀࡿࠋȱȱȱ◊✲༠ຊ⪅:ȱ ȱ➼࡟୙Ᏻࢆᢪ࠼ࡿ᪋タࡀᑡ࡞ࡃ࡞࠸ࠋ᪂⏕ඣᑠᯘȱ ᘯ඾㸦 ᓥ᰿኱Ꮫ་Ꮫ㒊ᑠඣ⛉ຓᩍ㸧ȱMS ࡛ࡣࠊ㝧ᛶ⪅࡟ᑐࡋࠊ㐺ษ࡟ᑐᛂࡉࢀ࡞ᒣ⏣ȱ ೺἞㸦ᓥ᰿኱Ꮫ་Ꮫ㒊ᑠඣ⛉་ဨ㸧ȱࡅࢀࡤ㞀ᐖⓎ⏕ண㜵ࡢ┠ⓗࡣ㐩ᡂࡉࢀ࡞࠸ࠋ㛗㇂ᕝȱ ᭷⣖㸦ᓥ᰿኱Ꮫ་Ꮫ㒊ᑠඣ⛉ຓᩍ㸧ȱࡇࡢ┠ⓗࢆ㐩ᡂࡍࡿࡓࡵ࡟ࡣࠊ᪂⏕ඣ MS ࢆȱᨭ᥼ࡍࡿ✀ࠎࡢయไᩚഛࡀ୙ྍḞ࡛࠶ࡿࠋࡑȱࡇ࡛ᮏ◊✲࡛ࡣࠊ᪂⏕ඣ MS ࡟㛵ࡍࡿデ᩿࣭A.ȱ ◊✲┠ⓗȱ἞⒪ࡢᥦ౪ࠊ࠾ࡼࡧ᳨ᰝ᪋タ࡟ࡼࡿᏳᐃࡋࡓ

2014 ᖺ᫓࠿ࡽ඲ᅜࡢ᪂⏕ඣ࣐ࢫ㺃ࢫࢡ࣮ࣜศᯒࢆᨭ᥼ࡍࡿᡭẁ࡜ࡋ࡚ࡢࢥࣥࢧࣝࢸ࣮ࢩࢽࣥࢢ㸦᪂⏕ඣ MS㸧࡟ࢱࣥࢹ࣒࣐ࢫࡀᑟධࣙࣥయไࢆᵓ⠏ࡍࡿࡇ࡜࡟ࡼࡗ࡚᪂ࡋ࠸᫬௦ࡉࢀࡿணᐃ࡛࠶ࡿࠋࡋ࠿ࡋ࡞ࡀࡽࠊࢱࣥࢹ࣒࡟༶ࡋࡓ᪂⏕ඣ MS ࡢᇶ┙ࢆᩚഛࡍࡿࡇ࡜ࢆ

࣐ࢫ᳨ᰝࡢᑐ㇟⑌ᝈࡣ⛥ᑡ⑌ᝈ࡛࠶ࡾࠊ඲ᅜ┠ⓗ࡜ࡍࡿࠋȱⓗ࡟ࡶᑓ㛛ᐙࡀᑡ࡞࠸ࠋᖹᡂ 22㹼24 ᖺᗘ࡟࠾ȱࡅࡿཌ⏕ປാ⛉Ꮫ◊✲ࡢࠕࢱࣥࢹ࣒࣐ࢫᑟධȱ࡟ࡼࡿ᪂⏕ඣ࣐ࢫ㺃ࢫࢡ࣮ࣜࢽࣥࢢయไࡢᩚ

B.ȱ ◊✲᪉ἲȱ

ഛ࡜㉁ⓗྥୖ࡟㛵ࡍࡿ◊✲ࠖ㸦◊✲௦⾲⪅㸸 ࢥࣥࢧࣝࢸ࣮ࢩࣙࣥࢭࣥࢱ࣮ࡢᩚഛᒣཱྀΎḟ㸧࡟࠾࠸࡚ࠊ᳨ᰝ⤖ᯝࡢゎ㔘➼ᢏ⾡ࢱࣥࢹ࣒࣐ࢫ㺃ࢫࢡ࣮ࣜࢽࣥࢢ࡛㝧ᛶ౛ࡀⓗᨭ᥼ࡢࡓࡵࡢ඲ᅜⓗࢿࢵࢺ࣮࣡ࢡࡢᵓ⠏ࡢฟࡓ᫬ࠊ඲ᅜࡢ࡝ࡇ࠿ࡽ࡛ࡶ࢔ࢡࢭࢫ࡛ࡁࡿᚲせᛶࡀᥦ㉳ࡉࢀ࡚࠸ࡿࠋࡲࡓࠊࢱࣥࢹ࣒࣐ࢥࣥࢧࣝࢸ࣮ࢩࣙࣥ❆ཱྀࡢタ⨨ࡢᅾࡾ᪉࡟ࡘ

ࢫἲ࡟ࡼࡿ᳨ᰝࢆ᪂つ࡟ᑟධࡍࡿ᪋タࡶከࡃࠊ ࠸᳨࡚ウࡋࡓࠋᮏᖺᗘࡣձࢥࣥࢧࣝࢸ࣮ࢩࣙ
⤒㦂ࡀᑡ࡞ࡃࠊศᯒᡭᢏࡸࢺࣛࣈࣝ࡬ࡢᑐฎ

ࣥࢭࣥࢱ࣮࡜ࡋ࡚ࡢᑐᛂࢆ⾜࠺ࡓࡵࡢᑐᛂ࣐

Ȭȱ85ȱȬȱ
ȱȱ– 85 –ࢽࣗ࢔ࣝࡢసᡂࠊղࢥࣥࢧࣝࢸ࣮ࢩࣙࣥࢭࣥ

ⓗ࡞▱㆑ࢆᚲせ࡜ࡍࡿ㉁ၥࡢሙྜ࡟ࡣ㏿ࡸ࠿ࢱ࣮ࢆ௓ࡋࡓ☜ᐃデ᩿ࡢࡓࡵࡢ≉Ṧ᳨ᰝ➼ࡢ࡟ᑓ㛛་ࠊ⤒㦂ࡢ࠶ࡿᢏ⾡⪅࡟┦ㄯ࡛ࡁࡿయᥦ౪యไࢆ᳨ウࡋࡓࠋȱไࢆ᝿ᐃࡋࡓࠋᑓ㛛་ࠊᢏᖌࡢ㑅ฟ࡟ᙜࡓࡗ࡚ࡣࠊ᪥ᮏ࣐ࢫ㺃ࢫࢡ࣮ࣜࢽࣥࢢᏛ఍⢭ᗘಖド ᝟ሗᥦ౪ࡢࡓࡵࡢ࣮࣒࣮࣍࣌ࢪࡢά⏝ࢩࢫࢸ࣒ጤဨ఍ࡢ᥎⸀࡟ࡼࡾ་ᖌ 12 ྡࠊᢏ⾡ ୍⯡ᕷẸ࠾ࡼࡧ་⒪㛵ಀ⪅࡟ᑐࡋ࡚ࢱࣥࢹ

⪅ 4 ྡࢆ㑅ฟࡋࡓࠋࡑࢀࡒࢀࢆࢥࣥࢧࣝࢸ࣮࣒࣐ࢫ㺃ࢫࢡ࣮ࣜࢽࣥࢢ࡟㛵ࡍࡿ᝟ሗᥦ౪ࢆࢩࣙࣥ་ᖌᅋࠊࢥࣥࢧࣝࢸ࣮ࢩࣙࣥᢏᖌᅋ࡜⾜࠺ࡓࡵࡢ࣮࣒࣮࣍࣌ࢪࡢά⏝࡟ࡘ࠸᳨࡚ウࡋࠊ㉁ၥࡣࢥ࣮ࣝࢭࣥࢱ࣮ࢆ㏻ࡌ࡚࣓࣮ࣝࢆࡋࡓࠋȱ⏝࠸࡚⾜࠺ࡇ࡜࡜ࡋࡓࠋࡲࡓࠊ㉁ၥࢆཷࡅ௜

ȱࡅࡿࡓࡵࡢᑓ⏝ࣇ࢛࣮࣐ࢵࢺࢆసᡂࡋࡓࠋȱ㸦೔⌮㠃࡬ࡢ㓄៖㸧ȱ ᮏ◊✲ࡣࠊࢥࣥࢧࣝࢸ࣮ࢩࣙࣥࢭࣥࢱ࣮ࡢ ࣮࣒࣮࣍࣌ࢪ࡟ࡼࡿ᝟ሗᥦ౪ȱᩚഛ࠾ࡼࡧ᝟ሗᥦ౪ࡢࡓࡵࡢ࣮࣒࣮࣍࣌ࢪࡢ᝟ሗᥦ౪ࡢࡓࡵࡢ࣮࣒࣮࣍࣌ࢪࢆᵓ⠏ࡀ┠ⓗ࡛࠶ࡾࠊᐇ㝿ࡢᝈ⪅᝟ሗ࡞࡝ࢆ฼

http://tandemȬms.or.jpȱ ࡟సᡂࡋࡓࠋȱ୍⯡ᕷẸྥࡅࡢ࣮࣌ࢪ࡛ࡣࠊࢱࣥࢹ࣒࣐ࢫ⏝ࡍࡿࡇ࡜ࡣ࡞࠸ࡓࡵࠊ≉ẁࡢ೔⌮ⓗ㓄៖ࡣせࡋ࡞࠸࡜⪃࠼ࡿࠋȱἲࡢᴫㄝࡸᑐ㇟࡜࡞ࡿ⑌ᝈ࡟㛵ࡍࡿㄝ᫂ࠊȱ

Q&A ᙧᘧ࡟ࡼࡿゎㄝࢆᥖ㍕ࡋࠊࢱࣥࢹ࣒࣐ȱࢫ㺃ࢫࢡ࣮ࣜࢽࣥࢢ࡟㛵ࡍࡿ᝟ሗࡀᚓࡽࢀࡿ

C.ȱ ◊✲⤖ᯝȱࡼ࠺㓄៖ࡋࡓࠋࡲࡓࠊQ&A ࡢ㒊ศ࡟ࡘ࠸࡚ ࢥࣥࢧࣝࢸ࣮ࢩࣙࣥࢭࣥࢱ࣮ࡢタ⨨ȱࡣᝈ⪅ಖㆤ⪅ࡢどⅬࢆ㓄៖ࡋ࡚ࠊᝈ⪅఍ࡢᙉ 㝧ᛶ౛ࡀ࡛ࡓ㝿࡟ࠊ඲ᅜ࡝ࡇ࠿ࡽ࡛ࡶ࢔ࢡຊࢆ௮ࡂෆᐜ➼࡟ࡘ࠸࡚ຓゝࢆᚓࡓࠋ་⒪㛵ࢭࢫྍ⬟࡞ࢥ࣮ࣝࢭࣥࢱ࣮ࢆタ⨨ࡋࡓࠋࢥ࣮ಀ⪅⏝ࡢ࣮࣌ࢪ࠿ࡽࡣࢥࣥࢧࣝࢸ࣮ࢩࣙࣥࢭ

ࣝࢭࣥࢱ࣮ࡣ་⒪㛵ಀ⪅ࠊ᳨ᰝᐇ᪋᪋タࠊ⮬ࣥࢱ࣮࡬࢔ࢡࢭࢫ࡛ࡁࡿ௙⤌ࡳࢆᵓ⠏ࡋࡓࠋȱ἞యࡀ฼⏝ฟ᮶ࡿᵝ࡟ࡋࠊ㐃⤡᪉ἲࡣ㟁ヰ࡟ȱࡼࡗ࡚ᑐᛂࡍࡿࡇ࡜࡜ࡋࡓࠋȱȱࡑࡇ࡛ࠊᮏᖺᗘࡣ㟁ヰᑐᛂ࣮࢜࣌ࣞࢱ࣮ࡀD.ȱ ⪃ᐹȱ౑⏝ࡍࡿ୍ḟᑐᛂ࣐ࢽࣗ࢔ࣝࢆసᡂࡋࡓࠋᑐ ࢱࣥࢹ࣒࣐ࢫἲ࡟ࡼࡾⓎぢ࡛ࡁࡿ୍ḟᑐ㇟ᛂ࣐ࢽࣗ࢔ࣝసᡂ࡟࠶ࡓࡾࠊ☜ᐃデ᩿ࡢࡓࡵ⑌ᝈࡣ 16 ⑌ᝈ࡜ࡉࢀ࡚࠸ࡿࡀࠊࡑࢀࡒࢀࡢⓎࡢ≉Ṧ᳨ᰝࢆᥦ౪ࡍࡿ᪋タ࡟ᑐࡋ࢔ࣥࢣ࣮ࢺぢ㢖ᗘࡣ 10 ୓ࠥ50 ୓ฟ⏕࡟ 1 ே⛬ᗘࡢ㉸⛥ࢆ⾜࠸ࠊཷࡅධࢀྍ⬟࡞᳨ᰝ࠾ࡼࡧ㈝⏝ࠊ⤖ᑡ⑌ᝈࡀከࡃࠊデ᩿࣭἞⒪࡟⢭㏻ࡍࡿ་ᖌࡣᯝุᐃࡲ࡛ࡢᮇ㛫ࠊᖺ㛫ࡢཷࡅධࢀྍ⬟௳ᩘ㝈ࡽࢀ࡚࠸ࡿࠋࡲࡓᐇ㝿ࡢࢱࣥࢹ࣒࣐ࢫ᳨ᰝ࡞࡝ࢆㄪᰝࡋࡓ㸦⾲ 1㸧ࠋࡲࡓࠊࢥ࣮ࣝࢭ್ࣥࡢุᐃ࡛ⱞ៖ࡍࡿࡇ࡜ࡶ࠶ࡿࠋࢥࣥࢧࣝࢸࢱ࣮࡛ᑐᛂࡍࡿࡓࡵ࡟ࠊࢱࣥࢹ࣒࣐ࢫ᳨ᰝ࡛࢕ࣥࢢࢭࣥࢱ࣮ࡢᩚഛ࡟ࡼࡾ㝧ᛶ౛ࡢデ᩿࣭㝧ᛶࡀฟࡓሙྜࡢྛ⮬἞య࡟࠾ࡅࡿ⢭ᐦ᳨ᰝ

἞⒪ࡢࢱ࢖࣑ࣥࢢࡀ㐜⁫ࡍࡿ஦ࢆ㜵ࡄࡇ࡜ࡀ་⒪ᶵ㛵ࡸ᪤Ꮡࡢࢥࣥࢧࣝࢺ་ᖌࡢ᭷↓ࠊ᳨ᮇᚅࡉࢀࡿࠋȱᰝែໃ࡞࡝࡟ࡘ࠸࡚࢔ࣥࢣ࣮ࢺㄪᰝࢆ⾜ࡗࡓࠋȱ  ࡲࡓࠊࢥࣥࢧࣝࢸ࣮ࢩࣙࣥ་ᖌ࣭ᢏ⾡⪅ࢆ㛵㐃Ꮫ఍ࡀ᥎⸀ࡍࡿࢩࢫࢸ࣒ࢆᵓ⠏ࡋࡓࡇ࡜ ࢥࣥࢧࣝࢸ࣮ࢩࣙࣥ་ᖌᅋࠊᢏᖌᅋࡢ࠶ࡾ᪉ȱ࡛ࠊ⥅⥆ⓗ࡟඲ᅜࡢᑓ㛛ᐙ࡟⌧ሙ་⒪㛵ಀ⪅ࡀ࢔ࢡࢭࢫྍ⬟࡜࡞ࡗࡓࠋ௒ᚋࡣ┦ㄯࢆཷࡅࢥ࣮ࣝࢭࣥࢱ࣮ࡣ୍ḟᑐᛂ࣐ࢽࣗ࢔ࣝ࡟ᇶࡓ㝧ᛶ౛ࡢ୰࡛ᝈ⪅࡜デ᩿ࡉࢀࡓ౛ࡢ㏣㊧ㄪ࡙࠸࡚ᑓ㛛࣮࢜࣌ࣞࢱ࣮ࡀᑐᛂࡍࡿࡀࠊᑓ㛛ᰝ࡞࡝ࢆ⾜࠸ࠊᮏ◊✲ࡢホ౯➼ࢆ⾜࠺ᚲせࡀȱ

Ȭȱ86ȱȬȱ
– 86 –㍕ࡋ࡚࠾ࡾࠊ᪂⏕ඣ MS ࡛㝧ᛶ࡜࡞ࡗࡓඣࡢ௕ 崧嵛崯嵆崡峼଑ো峁峉ৗেు嵆崡崡崗嵒嵤崳嵛崘峘ᐙ᪘ࡢ୙Ᏻࢆ㍍ῶࡍࡿ஦ࡶᮇᚅฟ᮶ࡿࠋȱ੍ର৬਑ତ૟峒峇峘঺ভ৓ਔଝ ࡇࢀࡽࡢྲྀࡾ⤌ࡳ࡟ࡼࡗ࡚ࠊ᪂ࡋ࠸᪂⏕ඣMS ࡢయไ࡟࠾࠸࡚ࡶデ᩿࣭἞⒪࣭ศᯒ࡞࡝࡟㛵ࡍࡿ୙Ᏻࡸືᦂࡀ᭱ᑠ㝈࡟࡞ࡿ஦ࡀᮇᚅࡉࢀࡿࠋȱȱȱF.ȱ ◊✲Ⓨ⾲ȱȱ࠶ࡿࠋȱ ࢱࣥࢹ࣒࣐ࢫ᳨ᰝࢆᑟධࡋࡓሙྜࡢ᪂⏕ඣȱ
MS ࡟࠾࠸࡚ồࡵࡽࢀࡿᨭ᥼యไ࡜ࡑࢀࡽࡢ♫఍ⓗព⩏ࢆᅗ♧ࡋࡓࠋᮏ◊✲࡛ࡣࢥࣥࢧࣝࢸ࣮ࢩࣙࣥయไ࠾ࡼࡧ≉Ṧ᳨ᰝᥦ౪యไࢆᩚഛࡍࡿ஦࡟ࡼࡾᑓ㛛ᐙ࡬ࡢ࢔ࢡࢭࢫࢆᐜ᫆࡟
ࡋࠊデ⒪ࡢ㉁ࢆ⥔ᣢࡋࠊデ⒪ࣞ࣋ࣝࡢᆅᇦ᱁ᕪࢆ᫝ṇࡍࡿ஦࡟ᐤ୚ࡍࡿࡶࡢ࡜ᛮࢃࢀࡿࠋࡲࡓࠊࢥࣥࢧࣝࢩ࣮ࣙࢩࣙࣥࢭࣥࢱ࣮࡟ᐤࡏ
ࡽࢀࡓ㉁ၥ➼ࢆ⮬἞య࡟ࣇ࢕࣮ࢻࣂࢵࢡࡍࡿ஦࡟ࡼࡾࠊࡉࡽ࡟᪂⏕ඣ MS ஦ᴗࡢ㉁ⓗྥୖ

1.ȱ ㄽᩥⓎ⾲ȱ1)ȱYamaguchiȱS,ȱPurevusrenȱJ,ȱKobayashiȱH,ȱHasegawaȱ Y,ȱ Mushimotoȱ Y,ȱ Yamadaȱ K,ȱ
TakahashiȱT,ȱFuruiȱM,ȱTaketaniȱT,ȱFukudaȱ
S,ȱ Fukaoȱ T,ȱ Shigematsuȱ Y:ȱ ExpandedȱnewbornȱmassȱscreeningȱwithȱMS/MSȱandȱmediumȬchainȱ acylȬCoAȱ dehydrogenaseȱ(MCAD)ȱ deficiencyȱ inȱ Japan.ȱ ᪥ᮏ࣐ࢫࢫࢡ࣮ࣜࢽࣥࢢᏛ఍ㄅȱ 23(3):ȱ 270Ȭ276,ȱ 2013ȱ(12 ᭶)ȱ
2)ȱ 㧗ᶫ▱⏨,ȱ ᒣ⏣೺἞,ȱ ⹸ᮏ㞝୍,ȱ ᑠᯘᘯ඾,ȱ㛗㇂ᕝ᭷⣖,ȱ ࢪ࣑࣭ࣕࣖࣥࣉࣞࣈࢫࣞࣥ,ȱ
ᆏᮏಟ,ȱ ኱ᾆᩄ༤,ȱ ᒣཱྀΎḟ:ȱ ᪂⏕ඣ࣐ࢫࢫࢡ࣮ࣜࢽࣥࢢ࡛Ⓨぢࡉࢀࡓ㍍⑕ᆺࣉࣟ࡟㈉⊩ࡍࡿ஦ࡀᮇᚅࡉࢀࡿࠋȱࣆ࢜ࣥ㓟⾑⑕: ᭷ᶵ㓟࡜࢔ࢩࣝ࢝ࣝࢽࢳȱࣥࡢ᥎⛣.ȱ ᪥ᮏ࣐ࢫ㺃ࢫࢡ࣮ࣜࢽࣥࢢᏛ఍

ȱㄅȱ 23(1):ȱ49Ȭ53,ȱ2013ȱ(6 ᭶)ȱ

E.ȱ ⤖ㄽȱȱ2014 ᖺᗘ࠿ࡽࡢ᪂⏕ඣ MS ࡬ࡢࢱࣥࢹ࣒࣐ࢫἲࡢᑟධ࡟ഛ࠼࡚ࠊ඲ᅜ࡛ࣞ࣋ࣝ฼⏝࡛ࡁ

2.ȱ Ꮫ఍Ⓨ⾲ȱ1)ȱ Yamaguchiȱ S:ȱ GCȬMSȱ forȱ diagnosisȱ ofȱࡿࢥࣥࢧࣝࢸ࣮ࢩࣙࣥࢭࣥࢱ࣮ࢆタ❧ࡋࡓࠋOrganicȱAcidurias.ȱ

Internationalȱ

་⒪㛵ಀ⪅࣭ࢫࢡ࣮ࣜࢽࣥࢢ᳨ᰝᶵ㛵࣭⮬἞ConferenceȱonȱErrorsȱ

య࡟ྥࡅ࡚デ᩿࣭἞⒪ࢆ㏿ࡸ࠿࡟⾜࠺ࡓࡵࠊMetabolismȱ2013ȱ ㅮ₇.ȱNewȱDelhi,ȱIndia,ȱࡶࡋࡃࡣศᯒ➼࠾ࡅࡿࢺࣛࣈࣝ➼ࢆ㏿ࡸ࠿࡟

Aprilȱ2013ȱInbornȱofȱゎỴࡍࡿࡓࡵࠊࢥ࣮ࣝࢭࣥࢱ୍࣮࡛ḟᑐᛂࢆ2)ȱYamaguchiȱS:ȱFattyȱacidȱoxidationȱdefects.ȱ

⾜ࡗࡓᚋࠊᚲせ࡟ᛂࡌ࡚ඛኳ௦ㅰ␗ᖖ⑕ࡢᑓInternationalȱConferenceȱonȱInbornȱErrorsȱ㛛་㸦ࢥࣥࢧࣝࢸ࢕ࣥࢢ་ᖌ㸧ࡸ⤒㦂㇏࠿࡞ofȱ Metabolismȱ 2013ȱ ㅮ ₇ .ȱ Newȱ Delhi,ȱᢏ⾡⪅㸦ࢥࣥࢧࣝࢸ࢕ࣥࢢᢏᖌ㸧ࡀ㏿ࡸ࠿࡟

India,ȱAprilȱ2013ȱຓゝ➼ࢆ⾜࠼ࡿయไࢆᵓ⠏ࡋࡓࠋȱ3)ȱ YamaguchiȱS,ȱPurevsurenȱJ,ȱHasegawaȱY,ȱ ࡲࡓࠊᮏ◊✲࡛సᡂࡋࡓ࣮࣒࣮࣍࣌ࢪࡣ་

Kobayashiȱ H,ȱ Mushimotoȱ Y,ȱ Yamadaȱ K,ȱ⒪㛵ಀ⪅ࡢࡳ࡞ࡽࡎ୍⯡ᕷẸྥࡅࡢෆᐜࢆᥖ

Takahashiȱ T,ȱ Furuiȱ M,ȱ Fukaoȱ T,ȱ

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Shigematsuȱ Y,ȱ Fukudaȱ S:ȱ MediumȬchainȱHepatologyȱ andȱ Nutritionȱ ࢩ࣏ࣥࢪ࣒࢘.ȱ

acylȬCoAȱᮾி,ȱOctoberȱ2013ȱ

dehydrogenaseȱ(MCAD)ȱ

deficiencyȱ andȱ newbornȱ screeningȱ inȱ8)ȱ Hasegawaȱ Y,ȱ Kobayashiȱ H,ȱ Yamadaȱ K,ȱ

Japan.ȱ2013ȱJointȱMeetingȱofȱtheȱNewbornȱ

Takahashiȱ T,ȱ Yamaguchiȱ S:ȱ SelectiveȱScreeningȱTestingȱscreeningȱ forȱ organicȱ acidemiasȱ byȱ

Symposiumȱ (NBSȱ &ȱ GTS)ȱ andȱ theȱurinaryȱ organicȱ acidsȱ analysisȱ usingȱInternationalȱ

NeonatalȱGC/MSȱinȱAsianȱcountries.ȱTheȱ3rdȱAsianȱ

Screeningȱ(ISNS).ȱAtlanta,ȱUSA,ȱMayȱ2013ȱ

CongressȱforȱInheritedȱMetabolicȱDiseasesȱ4)ȱ YamaguchiȱS:ȱDiagnosisȱandȱtreatmentȱofȱ

(ACIMD),ȱ Theȱ 55thȱ Annualȱ Meetingȱ ofȱandȱGeneticȱSocietyȱforȱmitochondrialȱfattyȱacidȱoxidationȱdefects.ȱtheȱTheȱ Secondȱ Forumȱ ofȱ InternationalȱMetabolicȱ

TranslationalȱNovemberȱ2013ȱ

MedicineȱofȱClinicalȱ

Japaneseȱ SocietyȱDiseasesȱ

forȱ

Inheritedȱ

(JSIMD).ȱ

Chiba,ȱ

Geneticsȱ inȱ Beijingȱ Ȭȱ Developmentȱ andȱ9)ȱ Yamaguchiȱ S:ȱ Screening,ȱ diagnosis,ȱ andȱApplicationȱ ofȱ Geneticȱ Technologyȱ ㅮ₇.ȱtreatmentȱ ofȱ organicȱ andȱ fattyȱ acidȱ

Beijing,ȱChina,ȱAugustȱ2013ȱ

disorders.ȱ Theȱ 3rdȱ Asianȱ Congressȱ forȱ5)ȱ Yamadaȱ K,ȱ Kobayashiȱ H,ȱ Takahashiȱ T,ȱ

Inheritedȱ Metabolicȱ Diseasesȱ (ACIMD),ȱ

Hasegawaȱ Y,ȱPurevsurenȱJ,ȱ Fukudaȱ S,ȱItoȱ

Theȱ55thȱAnnualȱMeetingȱofȱtheȱJapaneseȱ

M,ȱ Yamaguchiȱ S:ȱ Responsivenessȱ ofȱSocietyȱ forȱ Inheritedȱ Metabolicȱ Diseasesȱbezafibrateȱ forȱ neonatalȱ onsetȱ formȱ ofȱ(JSIMD)ȱ Educationalȱ lecture.ȱ Chiba,ȱ

glutaricȱ acidemiaȱ typeȱ ϩ :ȱ comparisonȱNovemberȱ2013ȱwithȱ milderȱ formȱ usingȱ inȱ vitroȱ probeȱ10)ȱ ᒣ⏣೺἞,ȱ ᑠᯘᘯ඾,ȱ 㧗ᶫ▱⏨,ȱ 㛗㇂ᕝassay.ȱ 12thȱ Internationalȱ Congressȱ ofȱ᭷⣖,ȱ ୰ᮧಙ,ȱ ᒣཱྀΎḟ:ȱ ࢩ࣋ࣞࢫࢱࢵࢺInbornȱ Errorsȱ ofȱ Metabolism.ȱ Barcelona,ȱ㸦࢚ࣛࢫ࣏࣮ࣝ®㸧ᢞ୚୰ࡢࣆࣂࣟ࢖ࣝ࢝ࣝ

Septemberȱ2013ȱࢽࢳࣥୖ᪼ࡢ᳨ウ.ȱ ➨ 116 ᅇ᪥ᮏᑠඣ⛉Ꮫ6)ȱ Yamaguchiȱ S,ȱ Yamadaȱ K,ȱ Kobayashiȱ H,ȱ

఍.ȱ ᗈᓥ,ȱ2013 ᖺ 4 ᭶ȱTakahashiȱ T,ȱ Hasegawaȱ Y,ȱ Purevsurenȱ J,ȱ

11)ȱ ᑠᮧ᭷⣖,ȱ ᑠᯘᘯ඾,ȱ ᒣ⏣೺἞,ȱ 㧗ᶫ▱OhkuboȱT,ȱWatanabeȱM,ȱTsunemiȱT,ȱIshiiȱ⏨,ȱ ᒣཱྀΎḟ:ȱ ᪂⏕ඣ࣐ࢫ㺃ࢫࢡ࣮ࣜࢽࣥA,ȱTakumaȱH,ȱTamaokaȱA,ȱShigematsuȱY,ȱࢢ ᑐ ㇟ ⑌ ᝈ ࡟ ᑐ ࡍ ࡿ ฟ ⏕ ๓ デ ᩿ ࡢ ⤒ 㦂 .ȱFukudaȱ S:ȱ Twoȱ Japaneseȱ casesȱ ofȱ adultȱ

➨ 40 ᅇ᪥ᮏ࣐ࢫ࣭ࢫࢡ࣮ࣜࢽࣥࢢᏛ఍.ȱ ኱onsetȱ myopathicȱ formȱ ofȱ gulutaricȱ㜰,ȱ2013 ᖺ 8 ᭶ȱacidemiaȱ typeȱ ϩ .ȱ 12thȱ Internationalȱ12)ȱ ᱓ཎඃ,ȱ ᒸᮏ඾Ꮚ,ȱ ᇛ㈡ᮏᩄᘯ,ȱ ඖᮌᓫCongressȱofȱInbornȱErrorsȱofȱMetabolism.ȱ

⿱,ȱ ᑎᒸ࠸࡙ࡳ,ȱ ୰㔝ጾྐ,ȱ ᯘṇಇ,ȱ ᑠᯘ

Barcelona,ȱSeptemberȱ2013ȱ

ᘯ඾,ȱ ᒣཱྀΎḟ:ȱ ✺↛Ṛࡋࡓ࢝ࣝࢽࢳࣥࣃ7)ȱ Yamaguchiȱ S:ȱ Beriberiȱ (Vitaminȱ B1ȱࣝ ࣑ ࢺ ࢖ ࣝ ࢺ ࣛ ࣥ ࢫ ࣇ ࢙ ࣛ ࣮ ࢮ ȱ (CPT2)ȱ

deficiency)ȱ ofȱ youngȱ childrenȱ lurkingȱ inȱḞᦆ⑕ࡢ 9 ࢝᭶⏨ඣ౛.ȱ ➨ 40 ᅇ᪥ᮏ࣐ࢫ㺃modernȱ life:ȱ Aȱ newȱ approachȱ forȱࢫࢡ࣮ࣜࢽࣥࢢᏛ఍.ȱ ኱㜰,ȱ2013 ᖺ 8 ᭶ȱbiochemicalȱdetection.ȱ2013ȱJointȱMeetingȱ13)ȱ ྂᒃࡳ࡝ࡾ,ȱ ➉㇂೺,ȱ Ọ℩┿ᘪ,ȱ 㛗㇂ᕝofȱ 13thȱ Asianȱ PanȬPacificȱ Societyȱ forȱ᭷⣖,ȱ ᑠᯘᘯ඾,ȱ ᒣ⏣೺἞,ȱ ᒣཱྀΎḟ:ȱ ࣐Pediatricȱ Gastroenterology,ȱ Hepatologyȱ࢖ࢡࣟࢧࢸࣛ࢖ࢺ࣐࣮࣮࢝࡟ࡼࡿಶே㆑

andȱ Nutritionȱ andȱ 40thȱ Japaneseȱ Societyȱูࢆ⤌ࡳධࢀࡓඛኳ௦ㅰ␗ᖖ⑕ࡢฟ⏕๓forȱデ᩿.ȱ ᪥ᮏே㢮㑇ఏᏛ఍ ➨ 58 ᅇ኱఍.ȱ

PediatricȱGastroenterology,ȱȬȱ88ȱȬȱ
– 88 –௝ྎ,ȱ2013 ᖺ 11 ᭶ȱ14)ȱ ᒣཱྀΎḟ:ȱ ᪂ࡋ࠸᪂⏕ඣ࣐ࢫࢫࢡ࣮ࣜࢽ
ࣥࢢ࡜㑇ఏ࢝࢘ࣥࢭࣜࣥࢢ.ȱ ᪥ᮏே㢮㑇ఏᏛ఍ ➨ 58 ᅇ኱఍ȱ ㅮ₇.ȱ ௝ྎ,ȱ 2013 ᖺ11 ᭶ȱȱȱG.ȱ ▱ⓗ㈈⏘ᶒࡢฟ㢪㺃Ⓩ㘓≧ἣȱ ࡞ࡋȱȱȱȱȱȱȱȱ

Ȭȱ89ȱȬȱ
– 89 –