No. 28074: R398-1. Newborn Screening

DAR File No.: 28074
Filed: 08/31/2005, 03:39
Received by: NL

RULE ANALYSIS

Purpose of the rule or reason for the change:

The Administrative Rules Review Committee requested that the Department provide detail about the types of disorders for which infants are screened.

 

Summary of the rule or change:

A listing of the specific disorders in the screening battery is added. (DAR NOTE: This change in proposed rule has been filed to make additional changes to a proposed amendment that was published in the August 1, 2005, issue of the Utah State Bulletin, on page 4. Underlining in the rule below indicates text that has been added since the publication of the proposed rule mentioned above; strike-out indicates text that has been deleted. You must view the change in proposed rule and the proposed amendment together to understand all of the changes that will be enforceable should the agency make this rule effective.)

 

State statutory or constitutional authorization for this rule:

Subsections 26-1-30(2)(a), (b), (c), (d), and (g); and Section 26-10-6

 

Anticipated cost or savings to:

the state budget:

This change has no cost or savings impact. It does not impose or relieve any requirements listed in the original proposed rule.

 

local governments:

This change has no cost or savings impact. It does not impose or relieve any requirements listed in the original proposed rule.

 

other persons:

This change has no cost or savings impact. It does not impose or relieve any requirements listed in the original proposed rule.

 

Compliance costs for affected persons:

There is no compliance cost for adding the list of disorders.

 

Comments by the department head on the fiscal impact the rule may have on businesses:

Adding the list of disorders that will be screened for during routine newborn testing should not have a fiscal impact on impacted businesses. David N. Sundwall, MD Executive Director

 

The full text of this rule may be inspected, during regular business hours, at the Division of Administrative Rules, or at:

Health
Community and Family Health Services, Children with Special Health Care Needs
44 N MEDICAL DR
SALT LAKE CITY UT 84113

 

Direct questions regarding this rule to:

Fay Keune at the above address, by phone at 801-584-8256, by FAX at 801-536-0966, or by Internet E-mail at [e-mail]

 

Interested persons may present their views on this rule by submitting written comments to the address above no later than 5:00 p.m. on:

10/17/2005

 

This rule may become effective on:

10/18/2005

 

Authorized by:

David N. Sundwall, Executive Director

 

 

RULE TEXT

R398. Health, Community and Family Health Services, Children with Special Health Care Needs.

R398-1. Newborn Screening.

 

. . . . . . .

 

R398-1-3. Implementation.

(1) Each newborn in the state of Utah shall submit to the Newborn Screening testing, except as provided in Section R398-1-11.

(2) The Department of Health, after consulting with the Genetic Advisory Committee, will determine the Newborn Screening battery of tests based on demonstrated effectiveness and available funding. Disorders for which the infant blood is screened are:

(a) Biotinidase Deficiency;

(b) Congenital Adrenal Hyperplasia;

(c) Congenital Hypothyroidism;

(d) Galactosemia;

(e) Hemoglobinopathy;

(f) Amino Acid Metabolism Disorders:

(i) Phenylketonuria (phenylalanine hydroxylase deficiency and variants);

(ii) Tyrosinemia type 1(fumarylacetoacetate hydrolase deficiency);

(iii) Tyrosinemia type 2 (tyrosine amino transferase deficiency);

(iv) Tyrosinemia type 3 (4-OH-phenylpyruvate dioxygenase deficiency);

(v) Maple Syrup Urine Disease (branched chain ketoacid dehydrogenase deficiency);

(vi) Homocystinuria (cystathionine beta synthase deficiency);

(vii) Citrullinemia (arginino succinic acid synthase deficiency);

(viii) Argininosuccinic aciduria (arginino succinic acid lyase deficiency);

(ix) Argininemia (arginase deficiency);

(x) Hyperprolinemia type 2 (pyrroline-5-carboxylate dehydrogenase deficiency);

(g) Fatty Acid Oxidation Disorders:

(i) Medium Chain Acyl CoA Dehydrogenase Deficiency;

(ii) Very Long Chain Acyl CoA Dehydrogenase Deficiency;

(iii) Short Chain Acyl CoA Dehydrogenase Deficiency;

(iv) Long Chain 3-OH Acyl CoA Dehydrogenase Deficiency;

(v) Short Chain 3-OH Acyl CoA Dehydrogenase Deficiency;

(vi) Primary carnitine deficiency (OCTN2 carnitine transporter defect);

(vii) Carnitine Palmitoyl Transferase I Deficiency;

(viii) Carnitine Palmitoyl Transferase 2 Deficiency;

(ix) Carnitine Acylcarnitine Translocase Deficiency;

(x) Multiple Acyl CoA Dehydrogenase Deficiency; and

(h) Organic Acids Disorders:

(i) Propionic Acidemia (propionyl CoA carboxylase deficiency);

(ii) Methylmalonic acidemia (multiple enzymes);

(iii) Isovaleric acidemia (isovaleryl CoA dehydrogenase deficiency);

(iv) 2-Methylbutiryl CoA dehydrogenase deficiency;

(v) Isobutyryl CoA dehydrogenase deficiency;

(vi) 2-Methyl-3-OH-butyryl-CoA dehydrogenase deficiency;

(vii) Glutaric acidemia type 1 (glutaryl CoA dehydrogenase deficiency);

(viii) 3-Methylcrotonyl CoA carboxylase deficiency;

(ix) 3-Ketothiolase deficiency;

(x) 3-Hydroxy-3-methyl glutaryl CoA lyase deficiency; and

(xi) Holocarboxylase synthase (multiple carboxylases) deficiency.

 

. . . . . . .

 

KEY: health care, newborn screening

2005

Notice of Continuation September 22, 2004

26-1-30(2)(a), (b), (c), (d), and (g)

26-10-6

26-1-6