Dear father and mother: A healthy child is the source of joy for the family. If a child suffers from illness during the growth process, it will often bring different degrees of impact on the family and society; therefore, I would like to remind you that it is very important for your child to receive newborn screening and related health check services as soon as possible. Newborn screening can help children discover congenital metabolic abnormalities with no obvious symptoms at an early stage, and provide proper diagnosis and treatment as early as the golden treatment period, so as to minimize the damage to the body or intelligence of the disease. To find out if your baby has an inborn error of metabolism, newborn screening tests are done.

 

Newborn screening is recommended to do both designated items and self-funded items. The National Health Service currently specifies that 21 diseases must be screened for newborns, as well as five-in-one lytic body storage disease, severe combined immunodeficiency disease, biotinidase Deficiency, adrenoleukodystrophy, and spinal muscular atrophy have all established a complete diagnosis and treatment process. The brief introduction is as follows:

 

The NHS currently designates 21 items:

 

1. Congenital hypothyroidism

About one in every 3,000 babies. Newborn babies have almost no abnormal symptoms, and symptoms usually appear slowly after 2-3 months of birth; the main reason is that the baby lacks thyroid hormones in the body, which affects the growth and development of brain nerves and the body. If it is treated after 6 months, most of them will become mentally handicapped, stunted in growth and development, and short in stature. However, if it can be detected early, giving thyroxine treatment within 1-2 months after birth can make the baby have normal intelligence and physical growth and development.

 

2. Phenylketonuria

About one in every 35,000 babies. Symptoms usually appear 3-4 months after birth, such as: growth retardation, musty smell in urine and body, and severe mental retardation in the future; the main reason is that the baby's body cannot effectively metabolize the protein in food. Early detection, within 1 month after birth, most babies can have normal intellectual development if given special diet and regular follow-up.

 

3. Homocystinuria

About one in every 100,000 to 200,000 babies. The main reason is that the baby's body cannot effectively metabolize the protein in the food. If it is not treated, there will be complications such as general bone deformity, mental retardation, and thrombosis. Early detection, special diet and vitamin treatment can prevent the occurrence of intellectual deficiency in the baby.

 

4. Galactosemia

About 1 million babies will have a typical galactosemia. The main reason is that the baby's body cannot metabolize lactose normally, and vomiting, drowsiness, eye, liver and brain damage usually occur after feeding. It was discovered early that the use of milk products without lactose and galactose instead of breast milk or general infant milk powder can prevent the harm of diseases. Mothers who have given birth to a baby with this disease, it is best to avoid intake of foods containing dairy products or lactose during pregnancy, such as: milk, dairy products, offal, etc., so as not to cause possible harm to the baby with this disease.

 

5. Glucose-6-phosphate dehydrogenase deficiency Glucose-6-phosphate dehydrogenase deficiency

Three out of every 100 babies are born. It is a common genetic disease in Taiwan. It is mainly caused by the abnormal metabolism of glucose in red blood cells in the baby's body. When a baby with this disease is exposed to certain drugs, such as: eating broad beans, contacting naphthalene pills (stinky pills), rubbing purple syrup, taking Sulfonamides and antipyretic analgesics often easily cause acute hemolytic anemia. If not treated in time, it will lead to kernicterus, mental retardation, and even life-threatening. Early confirmation of the baby's health status and avoiding the above-mentioned pathogenic factors can reduce the harm to the baby.

 

6. Congenital Adrenal Hyperplasia

About one in every 15,000 babies. The most common cause of this disease is adrenal 21-hydroxylase deficiency. The clinical manifestations vary depending on the quality and quantity of "21-hydroxylase" deficiency: "sodium loss type", most of which are caused by a large amount of salt loss during the neonatal period Can create an imminently dangerous situation which, if neglected to diagnose, is likely to result in death. "Simple type", this type of baby girl will have abnormal sexual characteristics, amenorrhea after growth, excessive virilization, infertility and abnormal development. Affected male babies also have developmental problems. If not found early, physical and psychological correction is very difficult. In the "late-onset" type, patients do not develop symptoms until after infancy. Congenital adrenal hyperplasia, in addition to late onset, can be diagnosed early through screening. Early treatment can avoid life-threatening risks for newborns. According to the deficiency, appropriate supplementary drugs can be given to make them develop and grow normally.

 

7. Maple syrup urine disease

The domestic incidence rate is about 100,000 babies. It is named maple syrup urine disease because the patient's bodily fluids and urine have a sweet taste of maple syrup. Babies suffering from this typical disease will gradually experience vomiting, lethargy, loss of appetite, shortness of breath, jaundice, convulsions, etc. a few days after starting to feed. In severe cases, they may become unconscious, coma or even die. This disease is a rare disease with abnormal metabolism of special branched-chain amino acids, which makes the metabolism of branched-chain amino acids (valine, leucine, and isoleucine) unable to go smoothly. Early detection and treatment are very important for newborns, allowing them to have more normal growth and intellectual development.

 

8. Medium-chain acyl-CoA dehydrogenase deficiency Medium-chain acyl-CoA dehydrogenase deficiency

The domestic incidence rate is less than 1 in 300,000, but about 1 in 15,000 babies in Europe and the United States, it is the most common fatty acid metabolism disease. Clinical symptoms usually appear during the first two years of life. The baby will lack medium-chain fatty acid dehydrogenase, which will make the fat metabolism unable to go smoothly, and the incompletely decomposed fat will accumulate in the body to produce toxicity, causing damage to the brain and nervous system, causing vomiting, hepatomegaly, hypoketosis and hypoglycemia , confusion, coma and convulsions and other phenomena. Although some patients are asymptomatic, the disease kills 25% of the first episode and is often misdiagnosed as SIDS. Early screening can prevent disease onset, rapid treatment of hypoglycemia symptoms in the acute phase, and long-term treatment involves providing carbohydrate snacks before bedtime, avoiding prolonged fasting, and aggressive treatment of emergencies such as infections or gastroenteritis. If the injury can be properly prevented, the final prognosis is quite good.

 

9. Glutaric acidemia type 1

The domestic incidence is about 1 in 100,000 babies, and it is a rare disease with abnormal organic acid metabolism. The baby cannot decompose lysine and tryptophan normally due to the lack of pentadiyl-CoA dehydrogenase, and the toxic products accumulate excessively in the blood and tissues, resulting in gradual neurological symptoms and acute metabolic abnormalities. Usually the baby may have no abnormalities or only asymptomatic megalencephaly within a few months of life, but in late infancy gradually develops dyskinesia, progressive choreoathetosis, muscle hypotonia to rigidity, paralysis, angular arch reflex Symptoms such as flaring (outward turning of the limbs and arching of the body), and acute attacks of seizures or lethargic coma may also occur. Early detection and treatment are very important for newborns, allowing them to have more normal growth and intellectual development.

 

10. Isovaleric acidemia

The domestic incidence rate is about 80,000 babies will have one. It is a rare disease with abnormal organic acid metabolism. Due to the lack of isovaleryl-CoA dehydrogenase, the baby cannot decompose leucine normally, and the toxic product isovaleric acid accumulates excessively, which in turn invades the nervous and hematopoietic system. According to the severity of symptoms and the time of onset, it can be divided into two types: typical and atypical. A typical patient may be no different from a normal baby after birth, but symptoms such as fatigue, nausea, vomiting, lethargy, poor appetite, and cramps will gradually appear. The smell of stinky feet and sweat. If there is no correct diagnosis and treatment at this time, the patient will gradually become comatose. The onset time of atypical patients is late and the symptoms are mild and not obvious. They are often diagnosed only one year after birth, and are sometimes misdiagnosed as other similar diseases. After early screening and detection, the use of diet control and regular follow-up has a good therapeutic effect.

 

11. Methylmalonic acidemia

The domestic incidence rate is about 100,000 babies. It is a rare disease with abnormal organic acid metabolism. Due to the abnormal function of methylmalonyl coenzyme A mutase or the abnormal metabolism of cobalamin, the baby will accumulate organic acids such as methylmalonic acid and propionic acid in the body, causing damage to the nervous system, causing ketoacidosis and hypoglycemia in severe cases , hyperammonia, hyperglycinemia. The mortality rate of newborns and infants is very high. Early screening can prevent acute onset, timely supplement fluids, and avoid acidosis. For patients with effective VitB12, vitamin B12 treatment must be given. For patients with VitB12 invalid type, special formula milk powder and high-calorie diet can be given to maintain the concentration of methylmalonic acid in blood and urine in an ideal range.

 

12. Citrullinemia type I

Citrullineemia type I is one of the diseases of urea cycle disorders; patients often suffer from hyperammonemia due to the inability to metabolize blood ammonia. Onset in the neonatal period, the early general symptoms are poor feeding, vomiting, lethargy, restlessness, shortness of breath, etc. Their condition usually changes rapidly, and they show more serious neurological and autonomic problems. Without proper treatment, most patients die or develop complications. For long-term treatment, patients need to limit protein intake, use special milk powder to supplement growth and development needs, and use special drugs to help excrete blood ammonia, and regularly monitor blood ammonia and other values.

 

Thirteen, citrullinemia type II Citrullinemia type II

Citrullinemia type II is caused by a lack of Citrin protein function in the body. Neonatal-onset patients will develop cholestatic jaundice, abnormal liver function, various hyperaminoacidemia, galactosemia, and fatty liver during the first to fifth month of life. Severe cases can lead to growth retardation, abnormal bleeding or anemia, low blood sugar, enlarged liver, and even liver failure. Treatment includes fat-soluble vitamin supplementation and maintaining a high-protein, high-fat diet as much as possible.

 

14. 3-Hydroxy-3-Methylglutaric Aciduria

Abnormal leucine metabolism is a congenital hereditary disease and belongs to one of organic acidemias. Because the patient cannot synthesize enzymes to decompose leucine in the body, organic acids that are harmful to the human body accumulate in the body, and the blood ammonia level rises. The baby will be mentally retarded or even die due to acidosis and high blood ammonia. In addition to the inability to metabolize leucine, the second physiological defect is the inability to produce ketone bodies in response to chronic starvation. If protein intake can be restricted early, supplemented by special milk formula, and long-term hunger can be avoided, the physical and mental development of patients can still tend to normal.

 

15. Holocarboxylase synthetase lacks Holocarboxylase synthetase deficiency

Insufficient carboxylase function to use biotin as a coenzyme; babies often have symptoms such as difficulty in eating, breathing difficulties, rashes, hair loss and lethargy; in terms of metabolism, patients will have ketolactic acidosis, organic acidemia and hyperammonemia . Many complications can be prevented with timely biotin supplementation; however, if untreated, the condition can lead to developmental delays, seizures, and coma, which can even be life-threatening.

 

16. Very Long Chain Acyl CoA Dehydrogenase Deficiency

This condition results in the body's inability to convert certain fats into energy, especially in a fasted state. Typical symptoms appear in infancy or early childhood and include low blood sugar, lethargy, and muscle weakness. Patients may develop liver or life-threatening heart problems. If symptoms begin in adolescence or adulthood, there is usually myalgia and rhabdomyolysis. When muscle tissue is broken down, a protein called myoglobin is released, which passes through the kidneys into the urine and turns the urine red or brown. In terms of diet, the main principle of treatment is to avoid hunger by eating small meals frequently, restricting the intake of long-chain fatty acids and supplementing carnitine.

 

17. Primary carnitine deficiency

Or carnitine transport disorders. The domestic incidence rate is about one in 30,000. Carnitine is responsible for transporting fatty acids to the mitochondria for oxidation to produce energy. When patients with primary carnitine deficiency develop hyperammonemic encephalopathy before one year old, cardiomyopathy occurs after one year old. As long as it can be diagnosed early, taking carnitine regularly can avoid the onset.

 

18. Carnitine Palmitoyltransferase I deficiency

This condition prevents the body from using fatty acids for energy, especially when food intake is insufficient. The severity of symptoms varies from person to person, and usually occurs in early childhood. Patients cannot effectively use fatty acids to produce energy, resulting in low ketoacid hypoglycemia, often accompanied by hepatomegaly, abnormal liver function, and other symptoms, as well as nervous system damage. risk of injury, liver failure, seizures, coma, and sudden death; preventing hypoglycemia reduces the risk of nerve damage. In order to prevent hypoglycemia, infants need to increase feeding frequency during the day and continue to supplement cornmeal at night; when patients are sick or undergoing special medical treatment such as surgery, they should not eat for more than 12 hours; adult patients should follow the principle of high-sugar and low-fat diet, To ensure that the body uses carbohydrates as the main source of energy.

 

19. Carnitine Palmitoyltransferase II deficiency

This condition prevents the body from using fatty acids for energy, especially when food intake is insufficient. The most severe form of neonatal fatality occurs shortly after birth, and related symptoms include respiratory failure, epilepsy, liver failure, cardiomyopathy, cardiac arrhythmia, and hypoketoacid hypoglycemia. Late onset may not develop until childhood. Treatment is mainly to reduce the intake of long-chain fatty acids, prevent starvation, avoid hypoglycemia, and allow patients to supplement carbohydrates to generate energy when necessary.

 

20. Glutaric Acidemia type II

This condition is mainly caused by multiple acyl-CoA dehydrogenase deficiency, which leads to problems in the metabolism of fatty acids and branched-chain amino acids. Newborns may experience hypoglycemia, acidemia, muscle weakness, liver enlargement, etc. In addition, the soles of the feet may have a foul smell. Late onset may not occur until adolescence. Treatment can be supplemented with riboflavin and carnitine, and mainly high carbohydrate, low fat and low protein, to prevent hunger, avoid hypoglycemia, and allow patients to supplement carbohydrates to generate energy when necessary.

 

21. Propionic Acidemia

The most severe neonatal type produces symptoms a few weeks after birth, with poor feeding conditions, vomiting, seizures, hypotonia, dehydration, lethargy, sluggishness, and brain lesions. Late haircuts are relatively uncommon. Patients with this disease need to limit protein intake, especially amino acids that produce propionic acid. Therefore, in addition to a small amount of general diet, special formula milk powder can be given to provide sufficient protein and calorie supply for growth.

 

Optional:

 

Five-in-one Lysosomal storage disease:

Including Pompe disease, Fabry's disease, Gaucher's disease and mucopolysaccharidosis type I and type II, the detection of related enzymes is carried out. At present, genetic engineering technology can be used to manufacture the enzymes lacking in the patient's body for enzyme replacement Early diagnosis and appropriate treatment.

 

Severe combined immunodeficiency:

Due to the abnormal function of T lymphocytes, the patient's cellular immunity and antibody immune function are both defective, unable to resist viral and bacterial infections. The project screening can provide the baby with the opportunity of early diagnosis and early treatment. If you intend to let your baby accept this screening, please read the Severe Combined Immunodeficiency Health Education Sheet in detail to understand its purpose, method and importance of the disease. In addition, I would like to remind you: Babies with severe combined immunodeficiency who are vaccinated with BCG will be infected with tuberculosis and cause sequelae or death. The incidence rate of severe combined immunodeficiency is 1.4 per 100,000 people. If babies undergoing SCID screening wait until it is confirmed that there is no abnormality, they will receive BCG vaccination. The Centers for Disease Control and Prevention recommends that newborns be vaccinated at 5 months old.

 

Biotinidase deficiency:

The disease is divided into complete deficiency type and partial deficiency type, leading to clinical symptoms of varying severity, some symptoms are irreversible, but as long as oral biotin can eliminate and prevent the clinical symptoms.

 

Adrenoleukodystrophy:

Due to genetic variation, very long-chain saturated fatty acids accumulate in the white matter of the brain and the adrenal cortex. The pathogenic gene of the disease is located on the X chromosome. The clinical manifestations are also different due to the age of onset. In addition to the treatment with Lorenzo's oil, the current treatment Other options include bone marrow transplantation and gene therapy.

 

Spinal muscular atrophy:

Spinal muscular atrophy is a genetic disease in which the anterior horn cells (motor neurons) of the spinal cord degenerate due to congenital SMN1 gene abnormalities, resulting in muscle weakness and atrophy. The incidence rate is about 1/10,000. The most severe type 1 SMA patients will develop symptoms within 6 months of birth. Clinically, they will show low crying, weak breastfeeding, labored breathing and swallowing difficulties, and severe weakness of limbs and trunk. Died of respiratory failure within 2 years. The type 2 and type 3 patients are about onset after infancy or childhood respectively. This test can detect 95% of patients, and about 5% of patients cannot be diagnosed with the disease early because the number of SMN1 genes is normal but the function is not normal. At present, not all parents will receive carrier testing clinically, so comprehensive newborn screening will help patients to be diagnosed early, so that the medical team can invest in the integrated care of the baby as soon as possible.