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Newborn Screening Program Fact Sheets
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of Health, Division of Family Health, does not assume responsibility for
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the North Dakota Department of Health or the Division of Family Health.
1.
5-Oxoprolinuria
5-Oxoprolinuria, or pyroglutamic aciduria, is an inherited disorder of
amino acid metabolism.
2.
Arginase Deficiency
Arginase deficiency is one type of amino acid disorder. People with this
condition have problems removing ammonia from the body.
3.
Citrullinemia
Citrullinemia is one type of amino acid disorder. People with this
condition cannot remove ammonia from the body.
4.
Hypermethiuoninemia
Hypermethiuoninemia (also known as MET) is an inherited amino acid
disorder. People with this amino acid disorder cannot break down certain
components of protein.
5.
Tyrosinemia
People with tyrosinemia 1 have problems breaking down an amino acid
called tyrosine from the food they eat. If not treated, severe liver
disease and other serious health problems can occur.
6. 2MBDH Deficiency
2MBDH deficiency is one type of organic acid disorder. People with this
deficiency have problems breaking down an amino acid called isoleucine
from the food they eat.
7.
3MCC Deficiency
3MCC deficiency is one type of organic acid disorder. People with this
disorder have problems breaking down an amino acid called leucine from
the food they eat.
8. Beta Ketothiolase Deficiency
BKD stands for beta ketothiolase deficiency, one type of organic acid
disorder. This deficiency causes problems breaking down an amino acid
called isoleucine from food eaten.
9. GA-1
GA-1 stands for glutaric acidemia, type 1. People with this organic acid
disorder have problems breaking down the amino acids lysine and
tryptophan from the food they eat.
10. GA-2
GA-2 stands for glutaric acidemia, type 2. People with this organic acid
disorder have problems breaking down fat and protein into energy for the
body.
11. IVA
IVA stands for isovaleric acidemia. People with this type of organic
acid disorder have problems breaking down an amino acid called leucine
from the food they eat.
12. MMA
MMA stands for methylmalonic academia. This organic acid disorder causes
problems breaking down and using certain amino acids and fatty acids
from food eaten.
13. HCSD
HCSD stands for holocarboxylase synthetase deficiency. People with this
deficiency have problems changing protein and carbohydrates from food
into energy for the body.
14. PA
PA stands for propionic acidemia. People with this organic acid disorder
have problems breaking down and using certain amino acids from the food
they eat.
15. HMG Lyase
HMG lyase deficiency is one type of organic acid disorder. People with
this condition have problems breaking down an amino acid called leucine
from the food they eat.
16. CTD
CTD stands for carnitine transporter deficiency. People with this type
of fatty acid oxidation disorder have problems using fat as energy for
the body.
17. CPT-2
CPT-2 deficiency stands for carnitine palmitoyl transferase deficiency -
type 2. People with this type of fatty acid oxidation disorder have
problems using fat as energy for the body.
18. LCHADD
LCHADD stands for long chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
People with this fatty acid oxidation disorder have problems breaking
down fat into energy for the body.
19. MCADD
MCADD stands for medium chain acyl-CoA dehydrogenase deficiency. This
fatty acid oxidation disorder causes problems breaking down fat into
energy for the body.
20. SCADD
SCADD stands for short chain acyl-CoA dehydrogenase deficiency. Some
people with SCADD cannot break down fat into energy for the body.
21. TFP
Deficiency
TFP deficiency stands for trifunctional protein deficiency. People with
TFP deficiency have problems breaking down fat into energy for the body.
22. VLCADD
VLCADD stands for very long chain acyl CoA dehydrogenase deficiency.
People with this deficiency have problems breaking down certain types of
fat into energy for the body.
23.
Biotinidase
Biotinidase deficiency is a condition that causes the body to have
trouble using biotin. A person with this deficiency needs more biotin
than the amount eaten in the normal diet.
24. CAH
Congenital adrenal hyperplasia, or CAH for short, affects the way the
body makes hormones. The adrenal glands do not make enough cortisol and
the body makes too much male hormones.
25. CH
Congenital hypothyroidism is an inherited disease caused by the thyroid
gland not making enough thyroid hormone, which play a vital role in body
growth and brain development.
26.
Galactosemia
A person who has galactosemia cannot break down galactose (a sugar found
in milk and milk products) and it builds up in the body.
27.
Hemoglobin-E
Hemoglobin E disease is an inherited red blood cell abnormality. It is
usually not serious and does not often cause health problems.
28. MSUD
MSUD stands for maple syrup urine disease, named for the sweet maple
syrup smell of the urine in untreated babies. People with MSUD have
problems breaking certain amino acids found in protein.
29. PKU
PKU stands for phenylketonuria. People with this type of amino acid
disorder have problems breaking down pheylaline from the food they eat.
30. Sickle
Cell
Sickle cell disease affects red blood cells. The sickled red blood cells
can block the vessels through which blood flows.
31.
Cystic Fibrosis
Cystic fibrosis, or CF, affects breathing and digestion (breaking down
food). CF causes the body to make thick, sticky mucus that clogs the
airways of the lungs and can prevent the pancreas from doing its job to
help digest food.
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