What are the main clinical manifestations of phenylketonuria?
Dec 26, 2024
Source: Cainiu Health
Dr. Yang Ziqi
Introduction
Under normal circumstances, the main clinical manifestations of phenylketonuria include growth and developmental delays, neurological damage, skin lesions, musty odor in urine and sweat, as well as neurological and psychiatric symptoms. A strict dietary control should be implemented in daily life, limiting the intake of phenylalanine. At the same time, appropriate nutritional support should be provided according to the individual condition of the patient to ensure their growth, development, and metabolic needs are met.
Generally, the main clinical manifestations of phenylketonuria (PKU) include delayed growth and development, neurological impairments, skin abnormalities, musty odor in urine and sweat, and neuropsychiatric symptoms. A detailed analysis is as follows:
1. Delayed Growth and Development
Patients with phenylketonuria experience significant impairment in both physical and intellectual development. Due to an enzyme deficiency in the phenylalanine metabolic pathway, phenylalanine cannot be effectively converted into tyrosine, thereby affecting protein synthesis and cellular growth.
2. Neurological Impairments
The nervous system of PKU patients may sustain varying degrees of damage, presenting as cerebral atrophy, cerebellar malformations, and other abnormalities. These impairments may lead to symptoms such as seizures, hyperactivity, and inattention, which can affect the patient's daily life and learning ability.
3. Skin Abnormalities
Patient's skin is typically dry and may be accompanied by eczema or dermatographism. These conditions arise due to impaired skin barrier function caused by abnormal phenylalanine metabolism, which triggers inflammatory responses. Additionally, due to inhibited tyrosine synthesis, the patient's skin and hair may become lighter in color.
4. Musty Odor in Urine and Sweat
The urine and sweat of PKU patients may contain metabolic byproducts such as phenylpyruvic acid, which emit a distinctive odor resembling mouse urine or mold. This odor is a typical symptom of phenylketonuria.
5. Neuropsychiatric Symptoms
Patients may also exhibit neuropsychiatric symptoms such as restlessness, depression, and social withdrawal. These symptoms may result from the combined effects of neurological damage and metabolic abnormalities. Furthermore, some patients may experience increased or decreased muscle tone, manifesting as symptoms such as dysphagia and ptosis.
In daily life, strict dietary control should be maintained to limit phenylalanine intake. Additionally, appropriate nutritional support should be provided according to the individual patient's condition to ensure their growth, development, and metabolic needs are met. With proper dietary management and nutritional support, symptoms can be effectively alleviated, and quality of life can be improved.
