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D.C. Municipal Regulations (Last Updated: September 13, 2017) |
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Title 22. HEALTH |
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SubTilte 22-B. PUBLIC HEALTH AND MEDICINE |
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Chapter 22-B21. NEONATAL SCREENING SERVICES |
Section 22-B2199. DEFINITIONS
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2199.1 When used in this chapter, the following terms and phrases shall have the meanings ascribed:
2,4-Dienoyl-CoA reductase deficiency—an autosomal recessive genetic disorder characterized by a deficiency of 2,4 Dienoyl CoA Reductase necessary for the degradation of unsaturated fatty acids with an even number of double bonds. Symptoms include sepsis, hypotonia, decreased feeding, and intermittent vomiting. Low carnitine levels can be detected and respiratory acidosis may occur.
2-Methylbutryl-CoA dehydrogenase deficiency—an autosomal recessive genetic disorder resulting from a defect in the metabolism of the branched chain amino acid isoleucine. Symptoms include poor feeding, lethargy, hypoglycemia, and metabolic acidosis. Symptomatic patients display developmental delay, seizure disorders, and progressive muscle weakness in infancy and childhood.
3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)—a progressive autosomal recessive genetic disorder characterized by failure to thrive, hypotonia, muscle atrophy, seizures, mental retardation, and dermatological changes.
3-Methylglutaconyl-CoA hydratase deficiency—an autosomal recessive genetic disorder involving an enzyme in the metabolism of the amino acid leucine. Symptoms appear in a wide range of clinical severity and may include acute life-threatening cardiopulmonary symptoms soon after birth, psychomotor retardation, hypotonia, failure to thrive, microcephaly, seizures, and spasticity. Some patients may have acute episodes of vomiting, metabolic acidosis, and lethargy progressing to coma.
3-OH 3-CH3 glutaric aciduria or 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)—an autosomal recessive disorder. Symptoms may include metabolic acidosis, hypoglycemia, sensitivity to dietary leucine, carnitine deficiency, hepatomegaly, fever, somnolence, and coma. If this disorder is untreated, it is likely to result in death during childhood.
5-Oxoprolinuria (pyroglutamic aciduria)—a group of autosomal recessive genetic conditions including glutathione synthetase deficiency, glutamylcysteine synthetase deficiency and 5-oxoprolinase deficiency caused by a deficiency of one (1) of three (3) enzymes in the gama glutamyl cycle and characterized by metabolic acidosis, hemolytic anemia, electrolyte imbalance, and jaundice.
Argininemia—an autosomal recessive genetic condition that presents from two (2) months to four (4) years of age. Symptoms include progressive spastic paraplegia, failure to thrive, delayed milestones, hyperactivity, and irritability, with episodic vomiting, hyperammonemia, seizures, microcephaly, and cerebral atrophy resulting in mental retardation.
Argininosuccinic acidemia (ASA)— an autosomal recessive disorder of the urea cycle. Symptoms are hyperammonemia accompanied by lack of appetite, vomiting, listlessness, seizures, and coma. Onset is usually at birth, but symptoms may not be noticeable for days or weeks. The build up in ASA, if too high, ultimately causes a build up in ammonia. Build up of ammonia is toxic and can cause brain damage. ASA is also characterized by excessive urinary excretion of argininosuccinic acid, epilepsy, ataxia, mental retardation, liver disease, and friable, tufted hair.
Audiologist—a person who meets the education and experience requirements for a Certificate of Clinical Competence in the area of audiology granted by the American Speech and Hearing Association or who meets the educational requirements for certification and is in the process of accumulating the supervised experience required for certification.
Beta-ketothiolase deficiency (BKT)—an autosomal recessive disorder characterized by recurrent severe metabolic acidosis. Symptoms include increased plasma glycine level, metabolic acidosis, episodic ketosis, vomiting, dehydration, coma, and cardiomyopathy, with on average onset of five (5) to twenty-four (24) months.
Biotinidase deficiency (BIOT)—an autosomal recessive disorder characterized by a lack of the enzyme biotinidase that can lead to seizures, developmental delay, eczema, and hearing loss that are treated with free biotin. Symptoms include hypotonia, ataxia, alopecia, seborrheic dermatitis, and optic nerve atrophy. Metabolic acidosis can result in coma and death.
Carbamoylphosphate synthetase deficiency (CPS def.)—an autosomal recessive genetic condition that presents within seventy-two (72) hours with symptoms of lethargy, vomiting, hypothermia, respiratory alkalosis, and seizures progressing to coma. Survivors of the newborn period have recurrent episodes of hyperammonemia associated with viral infections or increased dietary protein intake. Some patients have a later onset with less severe symptoms.
Carnitine uptake defect (CUD)—a class of autosomal recessive disorders characterized by hypoketotic hypoglycemia, seizures, vomiting, lethargy progressing to coma, cardiomyopathy, and hepatomegaly. This disorder includes carnitine palmitoyl transferase deficiency type I and carnitine acylcarnitine translocase deficiency.
Citrullinemia (CITR)—an autosomal recessive genetic disorder characterized by a deficiency of argininosuccinic acid synthetase, hyperammonemia accompanied by lack of appetite, vomiting, listlessness, seizures, and coma. Onset is usually at birth, but symptoms may not be noticeable for days or weeks. When left untreated, brain damage, coma, and death will occur.
Congenital adrenal hyperplasia (CAH)— a set of inherited disorders that occurs in both males and females as a result of the excess production of male hormones and an underproduction of the enzyme 21-hydroxylase. Symptoms include severe acne, excess facial or body hair, early development of pubic hair, receding scalp hairline, menstrual disturbances in females, and infertility in males and females in its mild form and ambiguous genitalia in newborn girls and salt and hormonal imbalances in girls and boys in more severe forms. If not treated, CAH can cause heart failure and death within a few days from birth. CAH can not be cured, however, it can be effectively treated.
Cystic fibrosis (CF)—an autosomal recessive disorder characterized by progressive chronic damage to the respiratory system, chronic digestive system problems, and can affect other organs. CF affects mucus-producing glands producing thick mucus that can obstruct air passages in the lungs, affects sweat and salivary glands, and blocks enzymes secreted by the pancreatic duct. Cystic Fibrosis can cause lung disease, failure to grow, clubbed fingers and toes, muscular weakness, and visual impairment.
Department—the District of Columbia Department of Health.
Director—the Director of the District of Columbia Department of Health.
Galactosemia—a condition involving the inability to convert galactose to glucose.
Glucose-6-phosphate dehydrogenase deficiency (G6PD)—a condition resulting in anemia or jaundice that is made worse by certain medications and some foods.
Glutaric acidemia type I (GA-I)—an autosomal recessive enzyme deficiency genetic disorder characterized by hypoglycemia, dystonia, and dyskinesia. After a period of apparently normal development, the disorder may appear suddenly and present as vomiting, metabolic acidosis, hypotonia, and central nervous system degeneration. It is not yet known how or why Glutaric Acid causes brain damage, yet damage occurs when a crisis causes an acidic environment in the blood created by excess protein byproducts. Crises can be provoked by common childhood illnesses such as colds, flu, ear infections, stomach virus, fever, etc.
Hearing impairment—a dysfunction of the auditory system, of any type or degree, sufficient to interfere with the acquisition and development of speech and language skills, with or without the use of sound amplification.
Hearing screening—an objective physiological measure of hearing sensitivity used to determine the likelihood of hearing loss.
Hemoglobinopathy—a class of disorders caused by the presence of abnormal hemoglobin production in the blood, due to genetic variations that can result in production of hemoglobin with different structures or thalassemias and reduction in the amount of normal hemoglobin produced. This term includes the following hemoglobin variants: HbS, HbC, HbE, HbD, and alpha/beta thalassemias.
Homocystinuria—a condition resulting from one of several genetically determined errors of methionine metabolism.
Hyperammonemia, hyperornithinemia, homocitrullinemia syndrome (HHH)—an autosomal recessive genetic disorder that may present at birth or in later childhood. Newborns on high protein formulas or foods may vomit with feeding, refuse to eat, become lethargic, or develop hyperammonemic coma. Patients gravitate to diets low in milk and meat during childhood.
Hyperornithine with gyrate deficiency—an autosomal recessive genetic disorder characterized by slow progressive vision loss leading to blindness. Myopia and decreased night vision appear as early symptoms in the patient’s teens and early twenties.
Hypothyroidism—those clinical conditions that result from abnormally low circulating levels of thyroid hormone.
Institution—a hospital or maternity center.
Isobutyryl-CoA dehydrogenase deficiency—an autosomal recessive genetic disorder involving the inability to metabolize valine with a highly variable presentation.
Isovaleric acidemia (IVA)—an autosomal recessive genetic disorder caused by a defect in the breakdown of the molecule isovaleryl-CoA that presents in acute or intermittent episodes. IVA can present as an acute episode of illness during the first few weeks of a newborn’s life, or it may present chronically with intermittent episodes of illness throughout life. Both forms of IVA are caused by the same biochemical defect. Infants who survive an acute neonatal episode will go on to exhibit the chronic intermittent form. Symptoms of acute IVA are attacks of vomiting, lack of appetite, and listlessness; lethargy, neuromuscular irritability, and hypothermia are other characteristics. Episodes can be triggered by upper respiratory infections or by excessive consumption of high-protein foods. Early detection through newborn screening and good treatment of IVA generally leads to normal development. Permanent neurologic damage can occur if an acute episode is not prevented or is misdiagnosed.
Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHADD)—an autosomal recessive genetic disorder characterized by failure to oxidize fatty acids due to a missing or malfunctioning enzyme. Symptoms include hypoglycemia, lethargy, failure to thrive, cardiomyopathy and developmental delay. Early identification and treatment can prevent life-threatening episodes.
Malonic aciduria—an autosomal recessive genetic disorder caused by a deficiency of malonyl-CoA decarboxylase (MCD) with a variable presentation ranging from acute neonatal onset to later in childhood. Symptoms include developmental delay, seizures, hypotonia, diarrhea, vomiting, metabolic acidosis, hypoglycemia, and ketosis.
Maple syrup urine disease (MSUD)—a condition resulting from the impairment of branched chain alpha-ketoacid dehydrogenase.
Maternity center—a facility or other place, other than a hospital or the mother’s home, that provides antepartal, intrapartal, and postpartal care for both mother and newborn infant during and after normal, uncomplicated pregnancy.
Medium chain acyl-CoA dehydrogenase deficiency (MCADD)—an autosomal recessive genetic disorder characterized by inability to convert fat to energy. Fasting is not tolerated well in people with MCADD. Symptoms generally begin in infancy or early childhood, however, there are some with no apparent symptoms at birth. Low blood sugar, seizures, brain damage, cardiac arrest and serious illness can occur very quickly in children who are not feeding well. Some experience recurrent episodes of metabolic acidosis, hypoglycemia, lethargy, and coma. If not detected and treated appropriately, MCADD can result in intellectual and developmental disability and death. Those treated are expected to have normal life expectancy.
Metabolic disorder—a disorder that results in a defect in the function of a specific enzyme or protein.
Methylmalonic acidemia—one (1) of two (2) variations of an autosomal recessive genetic disorder caused by an enzymatic defect in the oxidation of amino acids characterized by lethargy, failure to thrive, vomiting, dehydration, respiratory distress, hypotonia, and hepatomegaly. Acute episodes may include drowsiness, coma, and seizures, with subsequent developmental delays. This disorder includes methylmalonic acidemia CblA, methylmalonic acidemia CblB, and methylmalonic acidemia mutase deficiency.
Multiple acyl-CoA dehydrogenase deficiency (MADD)—an autosomal recessive genetic disorder, also known as glutaric acidemia type II, with three (3) different clinical presentations. Symptoms include hypotonia, hepatomegaly, severe nonketotic hypoglycemia, metabolic acidosis, and variable body odor of sweaty feet.
Multiple carboxylase deficiency (MCD)—an autosomal recessive genetic disorder characterized by a biotin deficiency. Symptoms include seizures, developmental delay, eczema, and hearing loss. Other symptoms are immune system impairment, skin rashes, hair loss, and intellectual and developmental disability that are treatable with oral biotin supplements.
Neonatal carnitine palmitoyl transferase deficiency-type II (CPT-II)—an autosomal recessive genetic disorder of mitochondrial fatty acid oxidation that presents in three (3) forms. The classic form has adult onset of exercise-induced muscle weakness, often with rhabdomyolysis and myoglobinuria that may be associated with renal failure. A second form that is often fatal between three (3) and eighteen (18) months of age has symptoms of hepatomegaly, non-ketotic hypoglycemia, cardiomyopathy, hypotonia, and muscle weakness. A severe form presents in newborns with non-ketotic hypoglycemia, cardiomyopathy, hypotonia, muscle weakness, and renal dysgenesis in some patients.
Newborn—an infant under four (4) weeks of age.
Phenylketonuria (PKU)—the metabolic disease of the newborn in which metabolites of phenylalanine appear in the urine.
Propionic acidemia (PROP)—an autosomal recessive genetic disorder characterized by protein intolerance, vomiting, failure to thrive, lethargy, and profound metabolic acidosis. If not treated early, brain damage, coma, seizures and death can occur.
Severe Combined Immunodeficiency (SCID) -- a primary immunodeficiency disease that affects infants lacking T lymphocytes, the white blood cells that help resist infections. Babies with this disease are born healthy and identified only after they begin to suffer from severe infections. SCID affects a minimum of one in 100,000 newborns.
Short chain acyl-CoA dehydrogenase deficiency (SCAD)—an autosomal recessive genetic disorder of fatty acid beta oxidation with a usual clinical onset between the second month and second year of life, with some presenting within a few days of birth and some in adulthood. Symptoms include hypotonia, progressive muscle weakness, developmental delay, and seizures. Symptoms worsen with seemingly innocuous illness that may lead to lethargy, coma apnea, cardiopulmonary arrest, or sudden unexplained death.
Short chain hydroxy acyl-CoA dehydrogenase deficiency (SCHAD)—an autosomal recessive genetic disorder of mitochondrial fatty acid beta oxidation for which a complete spectrum of presentation has not been defined. Most patients have hypoglycemia as the major symptom along with seizures, neurologic sequala or death as the outcome. Several present in the first days or months of life with hypoglycemic seizures secondary to hyperinsulinism. Some patients present after one (1) year with acute onset of vomiting, lethargy, and hyponatremic seizures.
Trifunctional protein deficiency (TFP)—an autosomal recessive mitochondrial fatty acid oxidation genetic disorder characterized by an inability to break down long-chain fatty acids into an energy source. Metabolic crises can occur when fasting, as well as hypoglycemia, lethargy, hypotonia, myopathy, failure to thrive, cardiomyopathy, and neuropathy. Severe untreated cases may present as SIDS.
Tyrosinemia type I (TYRO-I)—an autosomal recessive genetic disorder that causes severe liver disease in infancy. Affected persons develop cirrhosis of the liver and eventually require liver transplantation. The most sever form causes symptoms within the first months of life. These infants experience poor weight gain, enlarged liver and spleen, swelling of the legs, increased tendency of bleeding. Even with therapy death frequently occurs within six (6) to nine (9) months of life for those with the severe form. Children with a less severe form also suffer from enlargement of the liver, spleen, poor weight gain, vomiting, and diarrhea.
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)—an autosomal recessive genetic disorder in which the body cannot oxidize fatty acids because of a missing or mal-functioning enzyme. Symptoms include hypoketotic hypoglycemia, hepatocellular disease, and cardiomyopathy. Fatal infantile encephalopathy may be the only indication of the condition.