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Forum
-> Children's Health
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amother
OP
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 Sun, Jun 18 2023, 8:04 am
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does the nhs test for cah in the heel prick test in newborns?
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amother
Amber
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Sun, Jun 18 2023, 10:32 am
| amother OP wrote: | | does the nhs test for cah in the heel prick test in newborns? |
This is what the NHS say about the heel prick test and what they test for in it. CAH doesn't seem to be on the list.
https://www.nhs.uk/conditions/.....test/
-sickle cell disease
-cystic fibrosis
-congenital hyperthyroidism-
and inherited metabolic diseases:
phenylketonuria (PKU)
medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
maple syrup urine disease (MSUD)
isovaleric acidaemia (IVA)
glutaric aciduria type 1 (GA1)
homocystinuria (pyridoxine unresponsive) (HCU)
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amother
Arcticblue
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Sun, Jun 18 2023, 10:40 am
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amother
OP
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Sun, Jun 18 2023, 10:47 am
I checked dor yeshorim and they check cah but only
CYP11B1 and not cyp21a2 why not both?
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amother
Arcticblue
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Sun, Jun 18 2023, 10:49 am
| amother OP wrote: | I checked dor yeshorim and they check cah but only
CYP11B1 and not cyp21a2 why not both? | Probably because the 21 hydroxylase mutation isn't life threatening. It's the non classic form.
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amother
OP
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Sun, Jun 18 2023, 10:51 am
| amother Arcticblue wrote: | | Probably because the 21 hydroxylase mutation isn't life threatening. It's the non classic form. |
oh I see.
what would be typical symptoms in a newborn or its only noticeable later?
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amother
Arcticblue
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Sun, Jun 18 2023, 11:51 am
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amother
OP
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Sun, Jun 18 2023, 1:49 pm
if 2 parents carriers result in a child with cah does it now become dominant and this 1 child can pass it down as a parent without another parent having it or being a carrier or does it still have to be both?
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amother
Arcticblue
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Sun, Jun 18 2023, 2:00 pm
| amother OP wrote: | | if 2 parents carriers result in a child with cah does it now become dominant and this 1 child can pass it down as a parent without another parent having it or being a carrier or does it still have to be both? | Still has to be both to have the full blown disorder. But having 1 copy of the gene can have some effects on your health.
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