Arkansas Administrative Code › Agency 007 - ARKANSAS DEPARTMENT OF HEALTH › Division 19 - Public Health Laboratory › Rule 007.19.20-001 - Rules Pertaining to Testing of Newborns Infants

Current through Register Vol. 49, No. 6, June, 2024
SECTION I.
DEFINITIONS.
A.
Phenylketonuria (PKU), Congenital
			 Hypothyroidism (CH)
and
Galactosemia
are conditions (diseases) which cause irreversible brain damage
				and mental retardation unless they are detected and treated at a very early
				stage in the life of a newborn individual. Untreated Galactosemia also results
				in liver disease, cataracts, and increased susceptibility to serious infection.
				Early diagnosis and treatment are absolutely essential in order to avoid these
				health problems.
B.
Sickle Cell Disease (SS)
is the most common inherited abnormality
			 of a red blood cell protein called hemoglobin. It is caused by a genetic
			 abnormality that must be inherited from both parents. Sickle Cell Disease may
			 cause serious health problems even in the first few months of life. It occurs
			 much more commonly in people of African American, Asian and Mediterranean
			 descent. In addition to the anemia, it lowers resistance to infection, and is
			 associated with increased morbidity and mortality unless diagnosed and treated
			 early. Sickle Cell Disease is one of a handful of related hemoglobinopathies
			 each of which can cause similar health problems with varying
			 severity.
C.
Sickle Cell
			 Trait
(AS) and other hemoglobinopathy traits differ from their
			 corresponding diseases. Traits occur when the genetic abnormality is inherited
			 from only one parent, the other parent contributing a normal gene.
			 Hemoglobinopathy traits cause only minor health issues that show up
			 occasionally in life. They are associated with normal life spans. Sickle Cell
			 Trait (AS) is the most common, occurring in 8 to 10% of African
			 Americans.
D.
Biotinidase
			 Deficiency (BIOT)
is caused by the lack of an enzyme called biotinidase,
			 resulting in an inability of the body to use Vitamin B substances absorbed by
			 the intestines. Without sufficient biotin, several other critical enzyme
			 systems are unable to function properly. Biotinidase deficiency can lead to
			 seizures, developmental delay, skin rash, and hearing loss. Newborns with the
			 disorder appear normal, but develop critical symptoms after the first weeks or
			 months of life. Symptoms include floppiness, seizures, developmental delay,
			 hair loss, rashes, hearing loss and vision loss. Metabolic acidosis can result
			 in coma and death. A daily biotin dietary supplement can prevent all
			 symptoms.
E.
Congenital
			 Adrenal Hyperplasia (CAH)
is a group of disorders caused by the
			 deficiency of an adrenal enzyme resulting in decreased production of important
			 hormones called Cortisol and aldosterone. Cortisol helps the body respond to
			 stressful events. Aldosterone helps the body maintain its fluids and salts.
			 Without enough of these hormones, the affected newborn may appear normal, but
			 can quickly develop symptoms including lethargy, vomiting, muscle weakness and
			 dehydration. In severe cases death may occur within a few weeks if left
			 untreated. One kind of CAH may show up first as ambiguous genitalia in the
			 newborn. Infants with milder forms of the disorder are still at risk for
			 reproductive and growth difficulties. If detected early and maintained on
			 appropriate doses of medication, infants diagnosed with CAH can have normal
			 growth and development.
F.
Cystic Fibrosis (CF)
is a disorder in which the body cannot make
			 an important protein involved in using chloride ions, an ingredient in table
			 salt. The major clinical consequences are the production of abnormally
			 thickened mucous secretions in the lungs and digestive systems of affected
			 newborns. With early detection and lifelong comprehensive treatment plans,
			 infants diagnosed with CF can be expected to live longer and in a better state
			 of health than in the past.
G.
Amino Acid Disorders
make up a group of inherited conditions in
			 which protein metabolism is disrupted. Onset of symptoms may occur shortly
			 after birth or after an apparently normal neonatal period. The symptoms may
			 occur in episodes with normal periods in between. The clinical onset may
			 include unusual odors in the urine, irritability, poor feeding, changes in
			 muscle tone, lightened pigmentation, failure to thrive, jaundice, or liver
			 enlargement. Other symptoms include intoxication-like symptoms such as
			 vomiting, lethargy, seizures, and coma. Treatment of amino acid metabolism
			 disorders includes a low-protein diet strictly controlling intake of specific
			 amino acids.
H.
Fatty Acid
			 Oxidation Disorders
make up a group of genetic metabolic deficiencies in
			 which the body is unable to oxidize (break down) fatty acids to make energy. An
			 enzyme is either missing or not working correctly. The main source of energy
			 for the body is a sugar called glucose. Normally when the glucose runs out, fat
			 is broken down into energy. However, that energy is not readily available to
			 children and adults with a fatty acid oxidation disorder. If undiagnosed and
			 untreated, these disorders can lead to serious complications affecting the
			 liver, heart, and eyes; general muscle development; and possibly death.
			 Symptoms of a metabolic "crisis" include vomiting, diarrhea, lethargy and
			 difficulty breathing.
I
Organic Acid Disorders
make up a group of inherited
			 metabolic diseases that lead to accumulation of organic acids in biological
			 fluids (e.g., blood and urine). The accumulation produces disturbances in the
			 acidity of the body and causes alterations in metabolic chemical reactions.
			 These disorders can cause intoxication-like symptoms such as vomiting,
			 metabolic acidosis, ketosis, dehydration, or coma. Some patients may have too
			 little sugar in the blood, or too much lactic acid or ammonia. Chronic symptoms
			 include recurrent vomiting, failure to thrive, floppiness and general
			 developmental delay. Symptoms of these disorders can be diminished by
			 restricting protein in the diet and, in some cases, supplementation with
			 vitamins or a nutrient called carnitine.
J.
Severe Combined Immunodeficiency
			 (SCID)
is a group of disorders characterized by severe defects in the
			 T-lymphocyte and B-lymphocyte systems. Affected babies are susceptible to
			 multiple types of life-threatening bacterial, viral, and fungal infections.
			 Early diagnosis of SCID is imperative as SCID is curable with hematopoietic
			 stem cell transplantation. Infants with SCID die of infections by age two (2)
			 years unless immunity is reconstituted by treatment. SCID is commonly known as
			 the "bubble boy" disease.
K. The
Collector
is the person or party responsible for collecting and
			 submitting the blood specimen for testing. The persons or parties who are
			 collectors under these Rules and Regulations are described in Section
			 IV.A.
L.
The
			 Department
is the Arkansas Department of Health.
M.
Spinal muscular atrophy (SMA)
is a genetic disease affecting the central nervous system, peripheral nervous
			 system, and voluntary muscle movement (skeletal muscle). Most of the nerve
			 cells that control muscles are located in the spinal cord, which accounts for
			 the word spinal in the name of the disease.
N.
Pompe disease
is an inherited
			 disorder caused by the buildup of a complex sugar called glycogen in the body's
			 cells. The accumulation of glycogen in certain organs and tissues, especially
			 muscles, impairs their ability to function normally.
O.
Mucopolysaccharidosis
(MPS1)
			 refers to a group of inherited conditions in which the body is unable to
			 properly breakdown mucopolysaccharides (long chains of sugar molecules that are
			 found throughout the body). As a result, these sugars buildup in cells, blood
			 and connective tissue which can lead to a variety of health problems.
P. Adrenoleukodystrophy (X-ALD) is a disease
			 linked to the X chromosome. It is a result of fatty acid buildup caused by the
			 relevant enzymes not functioning properly, which then causes damage to the
			 myelin sheath of the nerves, resulting in seizures and hyperactivity. Other
			 symptoms include problems with speaking, listening, and understanding verbal
			 instructions.