n.氨基酸（缺乏）症；氨基酸（缺陷）病

Aminoacidopathy is a rare genetic disorder characterized by an abnormal accumulation of amino acids in the body.
Early diagnosis and management are crucial for treating aminoacidopathies, as they can lead to severe complications if left untreated.
The patient was diagnosed with枫糖尿病, a type of aminoacidopathy caused by a deficiency in the enzyme hexokinase.
Hereditary tyrosinemia is another example of an aminoacidopathy that primarily affects the liver due to an inability to break down the amino acid tyrosine.
Inborn errors of metabolism, including aminoacidopathies, often present with symptoms like poor feeding, rapid weight gain, or unexplained lethargy in infants.
Aminoacidopathies can be challenging to diagnose, as their symptoms may initially resemble those of other more common conditions, necessitating extensive biochemical testing.
Genetic counseling is provided to families with individuals affected by aminoacidopathies, as these disorders can have a significant impact on future generations.
Researchers are working on developing targeted therapies to address the root cause of aminoacidopathies, aiming to improve the quality of life for those living with these conditions.
Comprehensive metabolic screening programs have been implemented to identify cases of aminoacidopathies at an early stage, allowing for prompt intervention and treatment.
Proper nutrition plays a vital role in managing aminoacidopathies, as it helps to ensure the body has the necessary nutrients to compensate for the imbalances caused by these disorders.
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