Physician pocket reference : Georgia Newborn Screening Program

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reference for the mandated disorders and hearing loss and contact information for further assistance.
Physician Pocket PhyRsiecfiearnenPcoecket
Reference
PARTMENT
BLIC HEAL

Disorder/Incidence 3-Methylcrotonly-CoA carboxylase deficiency (3MCC) 1:50,000
Beta-ketothiolase deficiency (BKT) Incidence Unknown
Biotinidase Deficiency 1:60,000 (general population)
Glutaric acidemia type I (GAI) Fewer than 100 cases in U.S.
3-OH 3-CH3 glutaric aciduria (HMG) Synonym: HMG-CoA lyase deficiency Rare Isovaleric acidemia (IVA) 1:50,000
Methylmalonic acidemias (Mutase deficiency or Cbl A,B) 1:50,000 to 1:100,000
Multiple carboxylase deficiency (MCD) Synonym: Holocarboxylase deficiency 1:87,000 Propionic acidemia (PROP) 1:100,000
Argininosuccinic aciduria (ASA) 1:70,000
Citrullinemia (CIT) 1:200,000
Homocystinuria 1:350,000 (GA)
Maple Syrup Urine Disease (MSUD) 1:130,000 (GA)
Phenylketonuria (PKU) 1:17,000 (GA) Tyrosinemia 1:400,000 (GA)

Defect Deficiency of 3-methylcrotonyl-CoA carboxylase in Leucine pathway
Deficiency of mitochondrial acetoacetyl-CoA thiolase in isoleucine pathway
Enzyme deficiency, unable to recycle and produce free biotin
Deficiency of Glutaryl-CoA dehydrogenase in Lysine, Hydroxylysine, and Tryptophan pathway
Deficiency of 3-Hydroxy-3-methylglutarylCoA lyase deficiency in leucine pathway and in ketone body synthesis

Primary Indicator Elevated C5-OH.
Elevated C5:1 and C5-OH
Absent or decreased biotinidase activity Elevated C5-DC
Elevated C6DC and C5-OH

Symptoms
Can be asymptomatic, or can have symptoms including acute metabolic acidosis, hypoglycemia, hypotonia, muscle atrophy, seizures, and dermatological changes
Some are asymptomatic, while others have episodes of severe metabolic acidosis and ketosis. Cardiomyopathy, Prolonged QT interval
Seizures, hypotonia, apnea, skin rash/infection, developmental delay, alopecia, deafness, blindness, metabolic acidosis, coma, death
Hypoglycemia, rigidity of muscles, uncoordinated movements, vomiting, metabolic acidosis, hypotonia, seizures and central nervous system degeneration
Severe hypoglycemia, metabolic acidosis, hyperammonemia, vomiting, hypotonia hepatomegaly, coma, and death

Treatment L-Carnitine supplementation and restriction of dietary protein. Special formulas and "medical" foods
L-carnitine supplementation, avoid fasting, low protein diet, monitor urinary ketones
Pharmacological doses of oral biotin (5-20 mg/day).
Carnitine supplementation, Restriction of dietary lysine and tryptophan, IV fluids and bicarbonate used to treat acidosis Special formulas and "medical" foods
L-carnitine supplementation, avoid fasting, restriction of dietary protein and fat, medical foods

Deficiency of Isovaleryl-CoA dehydrogenase, unable to metabolize leucine
Deficiency of Methylmalonyl-CoA mutase required in the oxidation of amino acids
Deficiency in holocarboxylase synthetase which is important for effective use of biotin
Deficiency of Propionyl-CoA carboxylase
Deficiency of Arginiosuccinate lyase in urea cycle
Deficiency in argininosuccinic acid synthetase in urea cycle
Deficiency of cystathionine synthetase, unable to metabolize methionine and homocystine
Deficiency of the BCKD enzyme complex, unable to metabolize the branched chain amino acids (leucine, isoleucine, and valine)
Deficiency of phenylalanine hydroxylase, unable to convert phenylalanine to tyrosine
Deficiency of Fumarylacetoacetate hydrolase (FAH), unable to metabolize tyrosine other variant forms.

Elevated C5
Elevated C3
Elevated C5-OH
Elevated C3
Elevated citrulline
Elevated citrulline
Elevated methionine
Elevated branched chain amino acids (Leucine) Elevated leucine to alanine ratio Elevated phenylalanine
Elevated Tyrosine and methionine in plasma

Vomiting, acidosis, ketosis, mild hyperammonemia, hypocalcemia, transient bone marrow suppression, lethargy, coma, "Sweaty feet" odor

Life long restriction of dietary protein, L-Carnitine supplementation Special formulas and "medical" foods

Neonatal metabolic acidosis and ketosis with hyperammonemia, lethargy, failure to thrive, vomiting, respiratory distress, hypotonia, and can develop chronic renal failure

Restriction of isoleucine, methionine, valine, and threonine. L-carnitine supplementation. Vitamin B-12 treatment. Special formulas and "medical" foods

Seizures, hypotonia, immune system impairment, Biotin supplementation skin rashes, hair loss, hearing loss, and mental retardation

Neonatal severe metabolic acidosis and ketosis with hyperammonemia, refusal to feed, vomiting lethargy, hypotonia, developmental delay, seizures, and death

L-Carnitine supplementation and restriction of methionine, Avoid fasting, isoleucine, valine and threonine. Special formulas and "medical" foods, Biotin Supplementation

Progressive lethargy, loss of appetite, irritability, vomiting, hypothermia, respiratory alkalosis, hepatic disease, hyperammonemia, coma, seizures, apnea, death or mental retardation

Highcaloric, protein-restrictive diet, arginine supplementation, medical foods, ammonia scavenging drugs

Progressive lethargy, loss of appetite, vomiting, hypothermia, respiratory alkalosis, coma, seizures, apnea, death or mental retardation

Highcaloric, protein-restrictive diet, arginine supplementation, medical foods, ammonia scavenging drugs

Mental retardation, seizures, behavior disorder, thromboses, dislocated lenses, tall/thin stature, skeletal abnormalities

Life long low methionine diet with cystine supplementation. Pyridioxine supplementation also if responsive. Special formulas, "medical" foods, and treatment with Betaine (cystadane)

Acidosis, hypertonia, seizures, vomiting, apnea, coma, severe mental retardation, neurological impairment, death. Ear wax/urine smells like maple syrup

Life long diet low in leucine, isoleucine, and valine. Thiamine supplementation if responsive. Special formulas and "medical" foods

Severe Mental Retardation, eczema, seizures, decreased pigmentation, behavior disorder, "mousey" odor, microcephaly

Life long low phenylalanine diet, tyrosine supplementation. Special formulas and "medical" foods.

Hepatic damage, liver cirrhosis and failure,

Life long low phenylalanine and tyrosine diet. Special

Fanconi syndrome, growth failure, hepatomegaly, formulas and "medical" foods. Orfadin is used to

hepatic carcinoma, thrombocytopenia,

prevent liver and kidney damage.

Physician Pocket Reference Contact List
Georgia Public Health Laboratory (404) 327-7950 Screening cards/envelopes (404) 327-7920/7921 Georgia Newborn Screening Program (404) 657-4143 State Electronic Notifiable Disease Surveillance System (SendSS) SendSS Administrator (404) 657-6450 SendSS Registration Website:
https://sendss.state.ga.us/sendss/login.screen

Georgia Newborn Screening Program Follow-up Coordinators Emory University Division of Medical Genetics Follow-up Program Coordinator (404) 778-8560 Metro-Atlanta Hemoglobin Disease Follow-up Program Coordinator (404) 463-0815 Outside Metro Atlanta Region- Hemoglobin Disease Follow-up Program Coordinator (706) 721-6251 Sickle Cell Foundation of Georgia (404) 755-1641 or (800) 326-5287 (toll free)

Universal Newborn Hearing Screening and Intervention (UNHSI) Coordinators: Rome 1-1 (706) 802-5626 Dalton 1-2 (888) 276-1558 or (706) 272-2219 Gainesville 2 (770) 535-6907 Cobb 3-1 (770) 514-2460 Fulton 3-2 (404) 730-8770 Clayton 3-3 (770) 961-1330 Gwinnett 3-4 (678) 442-6894 Dekalb 3-5 (404) 294-3722 LaGrange 4 (706) 845-4035 Dublin 5-1 (478) 275-6841 Macon 5-2 (478) 751-6359 Augusta 6 (706) 667-4757 Columbus 7 (706) 327-0951 Valdosta 8-1 800/316-8044 or (912) 293-6286 Albany 8-2 (912) 430-4212 Coastal District 9-1 (912) 264-3907 Waycross 9-2 (912) 338-5933 Athens 10 (706) 227-7182

Management and Treatment Resources

Emory University Division of Medical Genetics:

To contact the on call provider for:

Metabolic Nutritionist, Geneticist, Endocrinologist

or Pediatric Pulmonologist call: (404) 785-6000

Georgia Health and Science University Pediatric Sickle Cell Clinic:

On-call MD

(706) 721-3893

Georgia Comprehensive Sickle Cell Center/ Grady Health System:

On-Call MD

(404) 616-3572

For management and treatment resources for hearing loss,

contact the District UNHSI Follow-up Coordinator

Disorder/Incidence
Carnitine uptake defect (Group of disorders including CPT I, II, translocase) 1:40,000

Defect Defect in Carnitine transporters

Primary Indicator Low C0

Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHAD) 1:200,000

Enzyme deficiency that breaks down longchain fatty acids

Elevated C16-OH, C16:10H, C18:OH and C18:1OH

Medium Chain Acyl-CoA Dehydrogenase Enzyme deficiency, unable to metabolize fat

Deficiency (MCAD)

for energy in the absence of glucose

1:15,000 (US)

Elevated C8, C6, C10:1

Symptoms
Extreme sleepiness, irritable mood, poor appetite. Progressive hypokinetic dilated cardiomyopathy that is generally associated with muscular weakness. Coma or sudden death can also occur.
Hypoglycemia, lethargy, failure to thrive, and developmental delay, often accompanied by hypotonia and cardiomyopathy, some SIDS cases are caused by LCHAD
Hypoglycemia, hyperammonemia, vomiting, lethargy, coma, apnea, hepatomegaly, cardiac arrest, sudden unexplained death

Treatment Avoidance of fasting, dietary supplementation with medium chain triglycerides. Do NOT give Intralipids or MCT oil to these patients.
Avoid fasting and follow high-carbohydrate diet. Special formulas and "medical" foods. MCT oil supplementation, L-Carnitine supplementation
Regular feedings to avoid fasting, low fat diet, oral L-carnitine supplementation

Trifunctional protein deficiency (TFP) Rare
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) 1:69,000 Congenital Adrenal Hyperplasia (CAH) 1:19,000 (GA)
Hypothyroidism 1:4,000 (GA)
Hemoglobinopathies 1:1,300 (GA)
Cystic Fibrosis (CF) 1:2,500 Caucasians 1:17,000 African Americans Galactosemia 1:40,000 (GA)
Hearing Impairment 2-3:1,000 live births

Deficiency of trifunctional protein involved in mitochondrial long chain fatty acid oxidation
Enzyme deficiency that breaks down very long-chain fatty acids
Deficiency of 21-hydroxylase, unable to make cortisol and aldosterone. Many variant forms exist.
Absent, hypoplastic, or dysfunctional thyroid gland. About 20% are genetic in origin
Abnormal hemoglobin production
Defect in the Cystic Fibrosis Transporter Regulator (CFTR) protein
Deficiency of Galactose-1-Phosphate Uridyl Trasnferase (GALT), unable to convert galactose to glucose. Many variant forms exist. Abnormality usually in inner ears

Elevated C16-OH and C18:1OH
Elevated C14:1 (longchain fatty acid) C18:1, C16:1, C14:2
Elevated 17-hydroxyprogesterone (17-OHP)
Low or normal thyroxine (T4) with elevated thyroid stimulating hormone (TSH)
Abnormal hemoglobin fractions
Immunoreactive Trypsinogen and CFTR mutation analysis
Absent or reduced GALT enzyme activity. Elevated total galactose metabolites
Failure to pass automated screenings of auditory function: Automated Auditory Brainstem Response (A-ABR) ; or Automated OtoAcoustic Emissions (A-OAE)

Hypoketotic hypoglycemia in infancy or early childhood, along with hypotonia and oftenfatal hypertrophic cardiomyopathy, or sudden unexplained death.

Low fat, high carbohydrate diet. Avoid fasting and may require L-carnitine and MCT oil supplementation. Special formulas and "medical" foods

Hypoketotic hypoglycemia, hepatocellular disease, cardiomyopathy, fatal infantile encephalopathy

Avoid fasting. Dietary supplements with MCT oil. Possible carnitine supplements

Abnormal electrolytes: low sodium, elevated potassium, hypoglycemia, dehydration, cardiac arrhythmia, death, ambiguous genitalia in females, progressive virilization in both sexes, poor feeding, weight loss

Replace cortisol and aldosterone, salt supplementation in some, surgical correction for females

Prolonged neonatal jaundice, poor muscle tone, constipation, lethargy, feeding problems, large tongue, dry and mottled skin, distended abdomen, umbilical hernia

Thyroid hormone replacement (L-Thyroxine)

Hemolytic anemia, strokes, splenic sequestration, recurrent pain episodes, acute chest syndrome, life-threatening infections, hand-foot syndrome, tissue infarction/organ damage and failure

Prophylactic penicillin, immunizations, transfusions

Pulmonary obstruction and exocrine pancreatic Chest physiotherapy, , antibiotics, pancreatic enzyme

dysfunction. Failure to thrive.

replacement, proper nutrition and psychosocial support

Neonatal jaundice, vomiting, lethargy, diarrhea, liver damage, death from E.Coli sepsis, cataracts development delay, hepatomegaly, Fanconi's syndrome, growth failure
Hearing Impairment and delayed development in verbal expressive language. Relying on symptoms to cue to a diagnostic assessment can lead to a child typically much too old (6 months) to thrive communicatively.

Eliminate galactose and lactose from the diet. Soy formulas in infancy. Lactose and galactose free solid foods and medications.
Multiple. Regardless of whether "treatment" is sign language or hearing aids or surgery, the person's communicative functioning is better when auditory physiologic screening is complete by age 1 month, when auditory diagnostic assessment is completed by age 3 months (for those infants not passing the screening), and when habilitation is initiated by age 6 months (for those identified with a hearing impairment).

Recin nacido: el examen auditivo
permite el tratamiento temprano si se descubre una sordera - a fin de dar a su beb las mejores probabilidades de aprender el lenguaje.
Un beb con un problema auditivo desconocido no podra ser capaz de desarrollar sus habilidades de lenguaje. Es importante que se controle la audicin del recin nacido y que conozca los resultados de la prueba antes de abandonar el hospital.
Examen auditivo del recin nacido: se lo puede realizar pocas horas despus del
nacimiento no duele slo requiere unos minutos permite el tratamiento temprano si se detecta
una sordera
El tratamiento temprano puede mejorar el desarrollo del lenguaje y del cerebro de su bebe.
Identificacin y tratamiento Son muchas las razones por las que su beb puede no "pasar" el primer examen auditivo. Si esto ocurre, es muy importante que se asegure que le hagan una prueba de seguimiento para descubrir si su beb tiene una prdida auditiva.
Cuando los bebs no "pasan" su primer examen auditivo, un mdico o el hospital lo pueden referir a Children 1st. Children 1st referir los bebs para hacerles una prueba auditiva de seguimiento y, si es necesario, para que reciban servicios y tratamiento. La participacin en Children 1st es gratuita y no depende del nivel de ingresos ni de criterios de seguro de salud.

El examen auditivo y el de sangre del recin nacido
son dos pruebas de evaluacin importantes que hay que hacer antes de que su beb le den de alta del hospital. Asegrese de hablar con el mdico de su beb sobre estas pruebas. De ese modo, podr hacer todo lo necesario para asegurarse de que su hijo reciba la atencin que l o ella necesita. El tratamiento temprano de la sordera o de una enfermedad aumenta las probabilidades del beb de lograr un crecimiento sano. Para contactar a su coordinador local de Children 1st, llamar al nmero 800-822-2539. Para ms informacin, contactar al Programa de Evaluacin del Recin Nacido de Georgia al 404-657-4143.
Sitios web:
Examen e intervencin auditiva universal del recin nacido: health.state.ga.us/programs/unhs/
Examen de sangre del recin nacido: health.state.ga.us/programs/genetics
Divisin de Salud Pblica Two Peachtree St.NW Piso 11 Atlanta, GA 30303-3142

DPH03-061HW (7/2010)

Antes de abandonar el hospital, haga que su beb sea examinado.

Como padre . . .
quiere hacer todo lo posible para garantizar que su hijo est sano. Algo que puede ser de gran utilidad es que se examine a su hijo recin nacido para descartar cualquier enfermedad severa - antes de que abandone el hospital.
Las dos pruebas de evaluacin ms importantes para los recin nacidos son: 1. examen de sangre del recin nacido y 2. examen auditivo del recin nacido
El examen de sangre del recin nacido detecta enfermedades severas y es una prueba exigida por la ley del estado de Georgia.
El examen auditivo del recin nacido detecta la posibilidad de una sordera, que afecta la capacidad de su beb para aprender y hablar.

Recin nacido el examen de sangre del recin nacido puede identificar las
enfermedades descritas abajo de una manera temprana para que su beb pueda recibir
tratamiento, inclusive medicamentos, o frmulas especiales.

Examen de Sangre del Recin Nacido
Examen de sangre del recin nacido puede detectar las diez enfermedades siguientes que pueden ser mortales o causar dao cerebral dentro de los primeros das o semanas de la vida del beb. Todas estas enfermedades son tratables con dieta y/o medicacin y es importante que se las trate lo antes posible. Antes de salir del hospital asegrese de preguntar si se le extrajo sangre a su beb para realizar las pruebas:
Drepanocitosis
PKU (fenilcetonuria)
Galactosemia
Enfermedad de la orina del jarabe de arce
Hipotiroidismo Fibrosis Quistica
Hiperplasia adrenal congnita (CAH)
Tirosinemia
Homocistinuria
Deficiencia de biotinidasa
Deficiencia de acetil-CoA dehidrogenasa de cadenas medias (MCAD) y otros trastornos de oxidacion de acidos grasos
Si tiene dudas, converse con el mdico de su beb sobre estas enfermedades o si est preocupada por los resultados de las pruebas de su beb.

Las Pruebas
Se pinchar el taln de su beb recin nacido para obtener varias gotas de sangre. Estas gotas se envan al laboratorio estatal para evaluacin.
Identificacin y tratamiento Su mdico o el hospital recibirn una copia de los resultados de los exmenes de sangre. Deber conversar con su mdico sobre estos resultados en la primera visita que realice su beb, que suele programarse para una semana despus de su regreso a casa.
La ley del estado de Georgia exige que todos los bebs a los que se enva a su hogar antes de cumplir 24 horas, de nacido deben volver a ver a su mdico para que se realice el examen antes de que cumplan una semana de edad.
Se necesita obtener una nueva muestra de sangre del beb para repetir el examen si la primera muestra:
No se obtuvo como corresponde o lleg tarde al laboratorio estatal
Fue tomada antes de que el beb cumpliera 24 horas de vida
Indica un posible problema