Patients with galactosemia usually exhibit symptoms within a few weeks after birth, but some mild cases may not show obvious symptoms. Symptoms include jaundice, diarrhea, vomiting, and growth retardation. With timely diagnosis and treatment, most patients can develop normally.

Phenylketonuria is a chromosomal recessive genetic disorder, characterized by symptoms such as delayed intellectual development, neurological and psychiatric symptoms, eczema, skin scratches, pigment loss, and urine with a mouse-like odor. Early detection and treatment can prevent intellectual impairment and EEG abnormalities.

Neurogenetic diseases refer to neurological disorders caused by genetic factors, with symptoms including weakness in the limbs, among others.

Explore the multiple causes of congenital cerebral palsy, including genetics, infections, and drug effects, and emphasize the importance of early treatment.

Explore the causes of hemolysis, including immune responses due to maternal-fetal blood type incompatibility and genetic factors.

Phenylketonuria is a congenital amino acid metabolic disorder commonly found in familial inheritance.

Pediatric chromosome tests can be used to diagnose various genetic disorders

What does it mean if a newborn’s hearing test report shows a wild type?

TSH is a screening indicator for congenital hypothyroidism, also known as ‘cretinism.’ Phe is a screening indicator for phenylketonuria. A negative result indicates the absence of the corresponding disease.

Pediatric phenylketonuria is a chromosomal recessive genetic disorder. Elevated levels of phenylalanine in the serum may lead to emotional instability in children, requiring medication and increased water intake to alleviate symptoms.