03 JUN

What are the types of amino acid metabolic disorders that can be fatal in severe cases, don't relax!

  • Health Fitness
  • Ann
  • Apr 01,2022
  • 51

What are the types of amino acid metabolic disorders that can be fatal in severe cases, don't relax!

amino acid disorder is a genetic amino acid metabolic disease that is caused by changes in the structure and function of protein molecules and can occur at any age.

Acute onset is common in the neonatal period, infancy, and adolescence, and early diagnosis can prevent the onset of clinical symptoms and reduce physical damage.

1. Phenylketonuria

Hair from black to yellow, fair skin, rat body odor, mental retardation, microcephaly, epilepsy, behavioral, personality, neurocognitive and other abnormalities (such as depression, hyperactivity, autism, isolation, low self-esteem, etc.).

2. Diabetes diabetic diaphoresis

Children usually have cognitive and intellectual impairments, and language and learning functions are generally lower than those of normal children.

Patients may also have growth disturbances, cranial growth retardation, anemia, alopecia, loss of appetite, coma, crossed arches, central respiratory disturbances, maple syrup and other urinary manifestations.


Giant liver, jaundice, anemia, bleeding tendency, anorexia, vomiting and growth retardation, abnormal urine output, urinary foam, rickets, irritability, lethargy, angular arched back pain.

What are the symptoms of the disease


Phenylketonuria in untreated children can lead to hyperactivity and autistic psychological behaviors as they age, including purposeless hand movements, rhythmic shaking, and tardive dyskinesia.

2. Diabetic diabetic maple

Early onset, severe onset, and untreated, most children die of severe metabolic disorders within days of birth. Mild and intermittent children are prone to severe metabolic disorders and brain damage.

3. Tyrosinemia

Infections can cause acute peripheral neuropathy in some children, manifesting as severe pain, arch angle tension, and paralytic bowel obstruction. Rickets may also occur in children with kidney damage. If left untreated, it may develop into liver cancer.