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	<title>L-carnitine supplementation &#8211; BIOENGINEER.ORG</title>
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		<title>Massive Newborn Screening Effort in China Reveals Hidden Burden of Primary Carnitine Deficiency</title>
		<link>https://bioengineer.org/massive-newborn-screening-effort-in-china-reveals-hidden-burden-of-primary-carnitine-deficiency/</link>
		
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		<pubDate>Sat, 17 Oct 2026 12:21:44 +0000</pubDate>
				<category><![CDATA[Biology]]></category>
		<category><![CDATA[autosomal recessive inheritance]]></category>
		<category><![CDATA[carnitine transporter]]></category>
		<category><![CDATA[China]]></category>
		<category><![CDATA[Genetic Testing]]></category>
		<category><![CDATA[hypoketotic hypoglycemia]]></category>
		<category><![CDATA[L-carnitine supplementation]]></category>
		<category><![CDATA[Newborn Screening]]></category>
		<category><![CDATA[OCTN2]]></category>
		<category><![CDATA[prenatal diagnosis]]></category>
		<category><![CDATA[primary carnitine deficiency]]></category>
		<category><![CDATA[SLC22A5]]></category>
		<category><![CDATA[tandem mass spectrometry]]></category>
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					<description><![CDATA[A ten-year newborn screening program in Yancheng, China, identified 17 infants with primary carnitine deficiency and showed that SLC22A5 genetic testing can support both early diagnosis and prenatal counseling for affected families.]]></description>
		
		
		
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