在新陈代谢的先天性错误中的婴儿:诊断和治疗方面的考虑

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

Skeletal muscle relaxants are used to relax muscle tone and alleviate painful muscle contractions. However, the choice of skeletal muscle relaxants depends on the duration of the surgical procedure in order to minimize potential side effects. Skeletal muscle relaxants like neuromuscular blocking agents [NMBAs] are commonly employed as adjuvants alongside general anesthetics in clinical settings. NMBAs are also used to maintain controlled ventilation during surgery of the larynx or pharynx...

Spasmolytic agents are drugs used to alleviate muscle spasms and spasticity. They can be categorized into different chemical groups based on their mechanisms of action. Centrally acting spasmolytics primarily affect the spinal cord, while others directly target skeletal muscle cells.
A major class of centrally acting spasmolytics is the α2-agonist, such as tizanidine. These drugs bind to α2-adrenoceptors, inhibiting the release of the excitatory neurotransmitter glutamate. They also...

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...

Skeletal muscle relaxants are a group of drugs that can reduce muscle stiffness and induce temporary paralysis to relieve pain. These agents can act centrally to reduce muscle tone or spasms in painful conditions such as multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS), or spinal injuries; they are called antispasmodics or spasmolytics.
Peripherally acting skeletal muscle relaxants interfere with the neurotransmission at the neuromuscular end plate to induce paralysis during...

Centrally acting muscle relaxants reduce muscle tone and tension by interfering with the postsynaptic reflexes in the central nervous system.
Centrally acting drugs are classified into spasmolytic and antispasmodic drugs. Spasmolytic drugs such as baclofen, diazepam, and tizanidine inhibit spinal motor neurons and decrease muscle tone. Spasmolytic drugs are administered for severe and chronic spasms due to multiple sclerosis, cerebral palsy, stroke, and spinal cord and muscle injuries. However,...