Phenylketonuria (PKU) is a genetic disorder that can cause severe brain damage if left untreated. Many countries test newborns for PKU to ensure early intervention with a low-protein diet. Without testing, symptoms such as diarrhea, vomiting, light sensitivity, fussiness, and a musty odor can emerge. If left untreated, PKU can lead to developmental delays, self-injurious behaviors, and seizures. Early diagnosis and treatment through a phenylalanine-free diet can prevent these challenges.
In many parts of the world, most people will never see the common symptoms of PKU or phenylketonuria because many countries routinely test for this genetic disorder in the first few days of life. While uncommon, the condition is extremely serious if left untreated and can start causing serious life-long side effects within months of birth. The emphasis behind testing every newborn is to make sure those with PKU get immediate treatment in the form of a low-protein diet free of phenylalanines, which would otherwise build up and do harm. Early intervention is key to preventing all symptoms of phenylketonuria and giving people the opportunity to live relatively normal lives.
When this test is not available or is only optional, a number of phenylketonuria symptoms in infants with PKU begin to emerge when a baby is only one month or two months old. Parents may notice that children have excessive diarrhea or vomiting, which causes poor weight gain and can cause growth problems. Another of the symptoms of phenylketonuria may seem much less obvious to people. Babies can be sensitive to light, which is true for many babies. Parents should look for excessive sensitivity to light, but this may not be the best diagnostic factor.
The child with phenylketonuria symptoms is also characterized as very fussy or difficult. These babies may cry much more frequently, which is sometimes dismissed as colic. They are not so easy to dismiss persistent skin problems like dryness or eczema which can be abundant. Additionally, children with PKU often have a distinctive odor, which is described as almost musty or musty. This smell can also be present in the urine and is very different from the typical baby smell.
If these symptoms of phenylketonuria go unrecognized, the condition gets significantly worse over the course of a few months. The rising levels of phenylalanine in the body, which cannot be broken down or excreted, begins to cause severe brain damage. This could be expressed by failure to meet any or all of the developmental milestones, self-injurious behaviors such as head banging, increasing retardation which can rapidly become profound, and the occurrence of seizures. The emergence of these symptoms is usually an indication of PKU, but hopefully its early indications have led to treatment.
When phenylketonuria symptoms are recognized early, the difficult challenges faced by people with undiagnosed PKU can be avoided through diet alone. While a phenylalanine-free diet can be restrictive, it usually means that a person following such a diet after an early diagnosis does not suffer from the extremes of PKU. Cognition remains strong, developmental milestones are reached on time, and few disabilities exist. This is undoubtedly the best argument for making an early diagnosis. To treat this condition before the damage starts to accumulate is highly desirable.
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