Phenylketonuria (PKU) is a genetic amino acid metabolism disorder where the body cannot properly metabolize phenylalanine, leading to the accumulation of phenylalanine and its metabolites in the body, which damages the nervous system and manifests as symptoms such as intellectual disability, epilepsy, and unusual urine odor. Treatment involves special diets and medications to lower the concentration of phenylalanine in the blood, preventing damage to the nervous system.
The baby’s urine has no odor, which cannot rule out the possibility of phenylketonuria. If the hospital suspects phenylketonuria, further detailed examinations are needed to confirm the diagnosis. DNA testing can be conducted, and the results of genetic testing are more accurate. Phenylketonuria is a common genetic disorder characterized by amino acid metabolism abnormalities, and it is best to have the baby undergo further detailed examinations to clarify the condition. Early treatment can reduce the interference of the disease on the baby.
Explore the symptoms and developmental delays associated with pediatric neurogenetic disorders.
Explore treatment methods for intellectual disability in children, including the impact of genetic and congenital diseases, and how to help children through professional examinations and treatments.
Galactosemia is a disease caused by a congenital enzyme defect, preventing the normal metabolism of galactose, leading to the accumulation of galactose 1-phosphate and galactitol in the body. Symptoms may include liver and spleen enlargement, cataracts, and intellectual disability.
Possible causes of chromosome 9 abnormalities include long-term exposure to ionizing radiation environments, engaging in harmful substance operations, and genetic factors.
Pediatric galactosemia is a genetic disorder characterized by symptoms such as jaundice, loss of appetite, abdominal distension, diarrhea, vomiting, and hypoglycemia, which may also lead to cataracts within a few weeks after birth. For diagnosis, blood and urine tests for galactose concentration, as well as the measurement of 1-phosphogalactose uridylyltransferase levels in the child’s red blood cells, are typically required. If the enzyme is completely or nearly completely absent, galactosemia can be diagnosed. Early diagnosis involves eliminating galactose from the diet and may require lifelong adherence to this dietary restriction. With timely treatment, conditions such as cataracts, liver enlargement, and liver cirrhosis can be reversed.
Down syndrome is a congenital genetic disorder caused by chromosomal abnormalities, leading to intellectual disability, delayed physical development, distinctive facial features, and reduced resistance. There is currently no effective treatment method, and only through active education and training can the self-care abilities of affected children be improved. At the same time, attention should be paid to prevent infections, and severe patients may require family care.
The diagnostic criteria for phenylketonuria include genetic testing, determination of phenylalanine concentration in the blood, and clinical symptom assessment. Having a family member with phenylketonuria can also serve as a reference for diagnosis. The best treatment method is through dietary control, using low-protein foods.
Early symptoms of phenylketonuria include neurological abnormalities, reduced muscle tone, seizures, and delayed intellectual development, as well as lightening of hair, skin, and iris color, and dry skin.
