03 JUN

Although genetic metabolic diseases are harmful, they can be prevented and treated

  • Health Fitness
  • Jean
  • Mar 16,2022
  • 9

Although genetic metabolic diseases are harmful, they can be prevented and treated

Most genetic metabolic diseases have the following characteristics:

1. Most cases occur in the neonatal, early childhood and childhood periods;

2. Each cultural genetic metabolic disease is rare or uncommon in the world, metabolic diseases list but the number of disease types is large and the overall national incidence is high. 3;

Clinical manifestations are complex and diverse, lacking specificity, most children have neurological involvement and digestive symptoms, in addition to metabolic disorders, abnormal appearance, skin pigmentation, hair, urine and other special odors.

Infection, fever, starvation or intake of protein-rich foods may be the cause of the disease, and damage to the central nervous system is serious.

Failure to diagnose and treat the disease in a timely manner can lead to a decline in growth and development, lifelong disability, and even death.

Although inherited metabolic diseases are harmful, they can be prevented and treated.

Three levels of birth defect prevention and control measures can prevent most of the rare genetic metabolic disorders in a business by preventing the birth environment of the child and by improving the prognosis of the child.

Primary prevention: Couples with a birth history or family history of a child with a genetic metabolic disorder may choose pre-implantation diagnosis (PGT-M) after genetic counseling and genetic diagnosis to identify the site of the disease.

PGT-M, commonly known as third-generation in vitro fertilization (IVF), screens for embryos that do not undergo pathogenic mutations for transfer and is expected to result in a completely normal baby.

Secondary prevention: Prenatal genetic diagnosis to determine if the fetus is a carrier of a recessive genetic disorder, and natural pregnancy in couples where both partners are carriers of the recessive genetic disorder.

Tertiary prevention: After the birth of a newborn with a prenatal genetic diagnosis, a professional neonatologist will monitor and intervene early to help the baby keep pace with normal growth and development.