The relationship between cerebral palsy and genetic metabolic disorders The full name or scientific name of cerebral palsy (cerebralpalsy). It is usually a central movement disorder caused by non-progressive brain injury or abnormal brain development from various causes before and after birth. The clinical manifestations are mostly abnormal muscle tone, muscle weakness, involuntary movements, etc., often accompanied by sensory and behavioral disorders and skeletal muscle abnormalities, sometimes with seizures. It can be seen that cerebral palsy is a generic term for brain injury disorders in infants and children, and is a diagnosis based on symptoms and does not reflect the cause of brain injury. The diagnosis of cerebral palsy is often unclear, and the outcome of treatment for some children is often poor when the cause is not clear. So what is the relationship between cerebral palsy and genetic metabolic disorders? In fact, genetic metabolic disease is the cause of a large proportion of children with cerebral palsy and is the root cause of brain damage in children. Inherited metabolic diseases are actually quite common Inherited metabolic diseases, also known as inborn metabolic abnormalities, are a type of disease caused by defects in the metabolism of nutrients in the body. Many inherited metabolic disorders can cause brain damage. Genetic metabolic diseases have been identified in more than 500 species, and although the incidence of individual diseases is low, the overall incidence can be as high as 1 in 500 live births. 15-25% of perinatal deaths in developing countries are related to genetic diseases. In clinical practice, we often find children with unexplained cerebral palsy, cryptogenic epilepsy, low intelligence, developmental delay, or even developmental regression, and genetic metabolic disorders are often suspected after careful family history questioning combined with cranial magnetic resonance imaging (MRI)/CT examination. The majority of inherited metabolic diseases are autosomal recessive disorders. Each person’s genes are paired, and when one of the parents carries an adverse mutation and the other is normal, the child does not develop the disease; if both parents pass the adverse mutation to the child (1/4 chance), the child will develop the disease; if only one parent or both parents pass the normal gene to the child (3/4 chance), the child will not develop the disease. This means that the vast majority of inherited metabolic diseases are born to perfectly normal couples! Why genetic metabolic disorders are easily misdiagnosed as cerebral palsy Abnormal neurological manifestations are the most common symptoms of genetic metabolic disorders in newborns, often manifested as difficulty in sucking and feeding, followed by abnormal breathing, hypothermia or fever, convulsions, and even coma and altered muscle tone. Digestive system symptoms such as refusal to eat, vomiting and diarrhea are also more common. These are relatively common clinical symptoms in young children without clinical specificity, so they can easily be diagnosed as cerebral palsy or diarrhea or fever, and most of them do not have a family history, so they are not easily alerted by doctors. Children with genetic metabolic disorders are often seen with neurological manifestations such as unexplained fever, convulsions, developmental delay, developmental regression, impaired consciousness, and low intelligence during infancy. Genetic metabolic diseases should be diagnosed early. Genetic metabolic diseases usually cause great damage to the body, resulting in children with stunted growth, low intelligence, inability to take care of themselves and even death, causing a great burden to families and society. Genetic metabolic disorders lack a cure, but with a timely diagnosis, some children can have their symptoms reduced or delayed by special feeding. Some genetic metabolic diseases, such as vitamin B12 effective methylmalonic acidemia, classic phenylketonuria, and maple glycosuria, can significantly improve their prognosis through treatment and special feeding.