Patient's question:
My son was diagnosed with phenylketonuria (PKU) during the newborn screening shortly after his birth. The family was terrified back then. Later, under the guidance of the hospital, we have been paying close attention to his diet, taking medication, and undergoing regular check-ups, and his condition has basically returned to normal. However, now that we want a second child, we are worried about the same disease. Is this condition hereditary, and what are the chances?What kind of help is needed: How significant is the intergenerational inheritance of phenylketonuria?
Doctor's answer:
Phenylketonuria: It is a common amino acid metabolic disorder caused by a deficiency of enzymes in the phenylalanine degradation pathway, which prevents phenylalanine from being converted into tyrosine. This leads to the accumulation of phenylalanine and its ketone bodies, which are excreted in large amounts in the urine. Phenylketonuria is a type of inherited metabolic disease resulting from chromosomal gene mutations that cause a deficiency of phenylalanine hydroxylase (PAH) in the liver, leading to impaired phenylalanine (PA) degradation and resulting in damage to the central nervous system. Neurological abnormalities are uncommon, but may include microcephaly, increased muscle tone, abnormal gait, hyperreflexia, fine hand tremors, and repetitive movements of the limbs.