The Importance and Necessity of Genetic Metabolic Disorder Testing

Prenatal screening for genetic metabolic disorders is a simple, quick, and cost-effective blood test that can be performed shortly after a newborn’s birth to early detect any congenital genetic diseases. Early diagnosis allows for timely treatment, promoting healthy growth.

A child with a brain disease is hospitalized with no medication effect, suspected of having a genetic metabolic disorder, and seeking treatment methods.

Phenylketonuria (PKU) is a genetic metabolic disorder, emphasizing the importance of screening and diagnosis.

Health issues in infants due to umbilical cord infection and mother-to-child transmission of hepatitis B with high viral load, after treatment and testing, currently suspected of having a genetic metabolic disorder.

At just two months old, a child was born with the tongue sticking out of the mouth, appearing thick and uneven in size on both sides, with an asymmetrical face, torticollis, high muscle tone, recurrent diarrhea, and abdominal distension, which could be a sign of a genetic metabolic disorder.

Understanding the importance of neonatal disease screening and how to carry out screenings to prevent congenital genetic metabolic disorders.

A child just one month old is required by the disease control center to have a recheck of propionylcarnitine C3, and asks about treatment methods after confirmation.

Phenylketonuria is a genetic metabolic disorder, with the effectiveness of treatment and recovery time depending on the timeliness and continuity of treatment

A child’s hair turning yellow could be due to zinc deficiency or a genetic metabolic disorder.