Neonatal Blood screening : Tandem mass spectrometry (TMS) of dried blood spots (DBS) has been developed to perform high-throughput simultaneous quantitative analysis of different diagnostic metabolites in small amounts in biological samples-in this situation neonatal blood from heel prick. Any personal experience on diag of inborn errors of metabolism -CAH, Galactsaemia etc . Any National Programme in our country ??
What is metabolic autopsy in
children with sudden infant death (SID). , which include analyses of amino acid
and acylcarnitine profiles in plasma/urine??
Ans:- Many inborn errors of metabolism (IEMs) that cause cellular energy deficiency and/or intoxication are associated with sudden infant death (SID). Based on retrospective studies, approximately 0.9-6% of all SID cases involve IEMs .. Although these studies were subject to several forms of selection bias, they formed the rationale behind metabolic autopsy protocols for young children, which include analyses of amino acid and acylcarnitine profiles in plasma/urine
Neonatal Blood screening : Tandem mass
spectrometry (TMS) of dried blood spots (DBS) has been developed to perform
high-throughput simultaneous quantitative analysis of different diagnostic
metabolites in small amounts in biological samples-in this situation
neonatal blood from heel prick
Neonatal
Blood screening : Tandem mass spectrometry (TMS) of dried blood spots (DBS) has
been developed to perform high-throughput simultaneous quantitative analysis of
different diagnostic metabolites in small amounts in biological samples-in this
situation neonatal blood from heel prick. Any personal experience on diag of
inborn errors of metabolism -CAH, Galactsaemia etc . Any National Programme in
our country ??
IEMS
mean “inborn errors of metabolism:”- (IEMs)s often cause sudden infant death
(SID ): population neonatal bloodspot screening (NBS) programmes may detect
such defect early.
Many inborn errors of metabolism (IEMs) may be suspected for first time as
sudden infant death (SID). Nowadays, increasing numbers of neonates with IEMs
(inborn errors of metabolism) are identified pre-symptomatically by population
neonatal bloodspot screening (NBS) programmes. However, some patients escape
early detection because their symptoms and signs start before NBS test results
become available, they even A) die even before the sample for NBS has been
drawn or B) because there are IEMs which are not included in the NBS
programmes.
Since the 1990s, tandem mass spectrometry (TMS) of dried blood spots (DBS) has
been developed to perform high-throughput simultaneous quantitative analysis of
different diagnostic metabolites in small amounts in biological samples. As a
consequence, in the last 2 decades, population neonatal bloodspot screening
(NBS) programmes have expanded to include many IEMs.
Patients with treatable IEMs can remain undetected by population NBS programmes
for several reasons. In some IEMs, symptoms and signs including death may
already occur before the NBS test results become available or even before blood
for testing has been drawn, annulling the benefits of NBS. This is especially
relevant in areas where neonatal blood is collected relatively late, for
instance, in far off rural areas .
Worldwide, across different areas, population NBS programmes differ with
respect to the methodological aspects and the disorders screened.
Systematic studies on the percentage of IEMs in SID( sudden infant death
syndrome) cases are required because, although rare, SID that is preventable
due to the IEM concerned being treatable does still occur
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