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Newborn Screening Program Fact Sheets

The North Dakota Department of Health, Division of Family Health, does not assume responsibility for the content obtained from external hyperlinks accessed from this website. Any links to external sources are outside of our domain. Information on external websites does not necessarily reflect the views and opinions of 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.