Patients with this condition should avoid foods and vitamins containing the sugar substitute aspartame, which increases blood levels of phenylalanine. The red blood cells of affected individuals are also abnormal in shape, resembling a crescent or sickle rather than the normal disk shape. Sweat conductivity values greater than or equal to 50 mEq/L should be referred for quantitative analysis of sweat chloride. Cystic fibrosis (CF) is a genetic disease that affects normal functioning of the exocrine glands, causing them to excrete large amounts of electrolytes. Nasty Bitch Sydrome. Bone conduction testing is performed in a similar manner to air conduction testing; a vibrator placed on the skull is used to deliver tones to an infant instead of earphones as in the air conduction test. Explain that each ear is tested separately by using earphones and/or a device placed behind the ear to deliver sounds of varying intensities. CF is more common in Caucasians than in other populations. Depending on the results of these procedures, additional testing may be performed to evaluate or monitor progression of the disease process and determine the need for a change in therapy. Most newborns do not exhibit signs and symptoms of thyroxine deficiency during the first few weeks of life while they function on the hormone provided by their mother. Normal findings. Patients with CF have sweat electrolyte levels two to five times normal. The raised and lowered tones are delivered as in air conduction using 250 Hz, 500 Hz, 1,000 Hz, 2,000 Hz, and 4,000 Hz to determine the thresholds. Most infants born with congenital adrenal hyperplasia (CAH) make too much of the androgen hormones and not enough cortisol or aldosterone. High levels of androgens leads to precocious sexual development, well before the normal age of puberty, in both boys and girls. Some thalassemias may require iron supplementation. Patients who begin treatment soon after birth and continue treatment throughout life usually have normal growth and development. Continued episodes of hypoglycemia can lead to lack of coordination, chronic muscle weakness, learning disabilities, or mental retardation. Without treatment, liver and kidney damage will occur. The goal with treatment is to lessen symptoms. Specimens for newborn screening collected earlier than 24 h after the first feeding or collected from neonates receiving total parenteral nutrition may produce invalid results. Individuals with sickle cell disease have chronic anemia because the abnormal Hgb is unable to carry oxygen. For more detailed information refer to the monograph titled “Audiometry Hearing Loss”. in toddlers; school-age children perform poorly; possible neurologic problems with ongoing disease, Administer ordered antiretroviral medication or prescribed treatment modality; discuss family support for treatment of the child and mother; assess infection in other family members and children; educate about the importance of adhering to treatment modalities; consider individual cultures and socioeconomic strategies to foster positive outcomes, Screen for hearing loss in infants to determine the need for a referral to an audiologist, Assist in the diagnosis of congenital hypothyroidism, Assist in the diagnosis of abnormal hemoglobins as with Hgb C disease, sickle cell trait or sickle cell disease, and thalassemias, especially in patients with a family history positive for any the disorders, Assist in identifying the cause of hemolytic anemia resulting from G-6–PD enzyme deficiency, Detect congenital errors of amino acid, fatty acid, or organic acid metabolism, Detect congenital errors responsible for urea cycle disorders, Screen for multisystem disorders such as CF, biotinidase deficiency, or galactosemia, Test for HIV antibodies in infants who have documented and significant exposure to other infected individuals, CAH (adrenocorticotropic hormone [ACTH] and androgens), Hgb S: sickle cell trait or sickle cell anemia (most common variant in the United States; occurs with a frequency of about 8% among African Americans). The goal with treatment is to lessen symptoms. Top NBS abbreviation meanings updated September 2020 In the air conduction test, the tone is delivered to an infant through insert earphones or ear muffins, and the auditory response is measured through electrodes placed on the infant’s scalp. Hgb S and C result from abnormal amino acid substitutions during the formation of Hgb and are inherited hemoglobinopathies. HIV is the etiological agent of AIDS and is transmitted through bodily secretions, especially by blood or sexual contact. Lactose, the main sugar in milk and milk products, is composed of galactose and glucose. Expression of fear; expresses concern over caring for a disabled child; preoccupation with fear; increased tension; increased blood pressure; increased heart rate; vomiting; diarrhea; nausea; fatigue; weakness; insomnia; shortness of breath; increased respiratory rate; withdrawal; panic attacks, Provide access to social services; provide specific and culturally appropriate education; assist the patient and family to recognize effective coping strategies; assist the patient to acknowledge his or her fear; provide a safe environment to discuss fear; explore cultural influences that may enhance fear, Lack of interest or questions; multiple questions; anxiety in relation to disease process and management, including management of disabled child; verbalizes inaccurate information; lack of follow through with directions, Identify patient’, family’s, and significant othersߣ concerns about childߣs diagnosed disease or disability; provide information and support group information on caring for a disabled child; provide information on treatment options related to disease or disability (hearing loss, sickle cell anemia, etc. The accumulation of galactose-1-phosphate and ammonia is damaging to the liver, and symptoms likely to follow if untreated include hypoglycemia, seizures, coma, hepatomegaly, jaundice, bleeding, shock, and life-threatening bacteremia or septicemia. Synonym/acronym: NBS, newborn metabolic screening, tests for inborn errors of metabolism. Treatment may lower the chance for blood clots, heart disease, and stroke. CF is characterized by abnormal exocrine secretions within the lungs, pancreas, small intestine, bile ducts, and skin. • Medium-chain acyl-CoA dehydrogenase deficiency, Deficiency of or nonfunctioning enzyme: medium-chain acyl-CoA dehydrogenase, Greater than 1 in 25,000 births (found more often in white people from Northern Europe and the United States), Consultation with a dietician; low-fat, high-carbohydrate diet supplemented by special medical foods and formula consumed in small, frequent meals to avoid hypoglycemia; infants may need to be woken up to eat if they do not wake up on their own; administration of MCT oil and L-carnitine. (Method: Thyroxine, TSH, and HIV—immunoassay; amino acids—tandem mass spectrometry; hemoglobin variants—electrophoresis). Untreated, the deficiency can lead to loss of vision and hearing, ataxia, skin rashes, and hair loss. Treatment cannot cure the condition. Review the procedure with the parents or caregiver. The Centers for Disease Control and Prevention (CDC) has structured its recommendations to increase identification of HIV-infected patients as early as possible; early identification increases treatment options, increases frequency of successful treatment, and can decrease further spread of disease. What does NBS stand for in Medical? The major genetic disorders include phenylketonuria (PKU), maple syrup urine disease (MSUD), and tyrosinuria. Deficiency of or non-functioning enzyme: 3-methylcrotonyl-CoA carboxylase, 2-methylbutyryl-CoA dehydrogenase. The inability of dietary galactose and lactose to be metabolized results in the accumulation of galactose-1-phosphate, which causes damage to the liver, central nervous system, and other body systems. All content on this website, including dictionary, thesaurus, literature, geography, and other reference data is for informational purposes only. This information should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional. Obtain a list of the patient’s current medications, including herbs, nutritional supplements, and nutraceuticals (see. Numerous amino acids are evaluated by blood spot testing, and values vary by method and laboratory. Certain congenital enzyme deficiencies interfere with normal amino acid metabolism and cause excessive accumulation of or deficiencies in amino acid levels. Untreated or delayed treatment results in brain damage and mental retardation. • Very-long-chain acyl-CoA dehydrogenase deficiency, Deficiency of or non-functioning enzyme: very-long-chain acyl-CoA dehydrogenase. Early treatment can help prevent high arginine and ammonia levels. 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