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Testing for congenital metabolic disorders

Last update date April 1, 2022

Inspection using a new inspection method (tandem mass method) will begin from October 2011.

<What is the test for congenital metabolic disorders?>

This is a test to find a disease of congenital metabolic abnormalities. It is performed at hospitals that are hospitalized for childbirth, and blood is taken from the soles of the baby's feet and examined.
A baby with congenital metabolic disorders, etc. may look completely healthy at birth, but if left alone, it may cause physical or intellectual disability, or at times endangered.
However, these diseases can be detected early and appropriate treatment can be prevented from occurring.

From 2018, the following 20 diseases will be tested.

<Sies to be tested (20 diseases in total)>

Diseases to be tested (20 diseases in total)
Amino acid metabolism abnormality
(5 Diseases)
Phenylketonuria, maple syrup urinosis, homocystinuria, homocystinuria
Citrurin hematosis type 1, argininoocacate urinosis
Organic acid metabolism
(7 diseases)
Methyl marronic acidemia, propionate hematosis, isoticoid hematosis,
Methylchrotonyl glycine urinary disease, hydroxymethyl glutalate blood,
Composite carboxylase deficiency, glutarate blood type 1
Abnormal fatty acid metabolism
(5 Diseases)

Medium chain aciylCoA dehydrant enzyme (MCAD) deficiency
Extremely long chain acilCoA dehydrogenase (VLCAD) deficiency
Three-headed enzyme (TFP) / Long chain 3-hydroxyal CoA Dehydrogenase (LCD) deficiency
Carnitinebar Mito Iltransferase-1 (CPT1) deficiency
Carnitinebar Mito Iltransferase-2 (CPT2) deficiency

Others
(3 diseases)
Galactoseemia, congenital parathyroidism (including centrality)
Congenital adrenal hyperplasia

●Inspection target●

Baby 5 to 8 days after birth

●Inspection fee●

The inspection fee is free (paid by public expense). Blood collection fees and shipping costs will be borne by you.

●Application method●

Please fill in required items in the "Application for Testing for Congenital Metabolism" bound in the "Health Examination Ticket spelling" in the Maternal and Child Health Handbook and submit it to the medical institution.

※ If the diseases to be tested in the “Application for Test for Congenital Metabolism” are listed as 6 diseases, babies who collect blood after October 1, 2011 will be tested for 19 diseases. Please note that it will be.

●Implementation site●

Medical institutions in Yokohama City

●About inspection at the time of homecoming birth●

◎If you live in Yokohama City and give birth at a medical institution in Kanagawa Prefecture, you will receive the same test as Yokohama City.

◎When giving birth in another prefecture

If you live in Yokohama and give birth outside of Yokohama, please contact the prefecture and government-designated city that has jurisdiction over the Address area of the medical institution that can be tested.

◎When giving birth at home in Yokohama City

Even if you live outside Yokohama City and give birth at a medical institution in Yokohama City for homecoming births, you can still receive tests free of charge, blood collection fees, etc. for a fee as with Yokohama citizens. I can do it. (Please pay the blood collection fee to each medical institution.) An application form is provided at each related medical institution. You do not need to apply in advance.

●Others●

If there is no abnormality as a result of the test, the medical institution will notify you of the results at the time of a one-month-old child's medical examination.

●Contact information●

City of Yokohama, Child and Youth Bureau Regional Child Care Support Section TEL045-671-2455

For inquiries to this page

Child and Youth Bureau Children's Welfare and Health Department Community Child Care Support Section

Phone: 045-671-2455

Phone: 045-671-2455

Fax: 045-550-3946

Email address: kd-chikoshien@city.yokohama.jp

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Page ID: 833-792-012

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