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A child with a cold and fever was found to have a hidden genetic metabolic disease!

A child with a cold and fever was found to have a hidden genetic metabolic disease!

The child was admitted to the pediatric department of the health center with fever, cough, inherited metabolic disorders drowsiness, poor mental status, and progressive drop in blood cells.

He was initially considered to be a patient with hematologic disease combined with intracranial infection.

During the hospitalization, doctors examined and treated the child, whose condition was recurrent, including hypoglycemia, pneumonia, acidosis, electrolyte disorders, and partial organ dysfunction, which could be life-threatening.

The doctors found significant elevations in blood propionylcarnitine (C3), propionylcarnitine to acetylcarnitine ratio (C3/C2), urinary methylmalonic acid and methyl citrate levels, and invited a genetic metabolism and endocrinology specialist for consultation.

The final diagnosis of methylmalonic acidemia was considered in the context of the patient's clinical presentation. Under the guidance of a genetic metabolism and endocrinology specialist, the physician administered a nutritional fortification, a low-protein diet, and an L-carnitine excretion program.

Under the guidance of a genetic metabolism and endocrinology specialist, the doctor treated the patient with nutrition enhancement, low protein diet, L-carnitine excretion of L-carnitine, and prevention of grade II low grade A. The patient's level of methylmalonic acid decreased significantly (from 431.68umol/0.02mgCre to 24.32umol/0.02mgCre), and her condition improved, and she was discharged successfully.

Genetic metabolic disorders, also known as congenital metabolic abnormalities, have a total incidence of 0.5% and can be seen in newborns, infants, children, adolescents, and even adults.

Methylmalonic acidemia is one of the common genetic metabolic disorders in newborns and infants. Due to protein deficiency (enzyme), methylmalonic acid (toxic substance) is not metabolized and accumulates in the bone marrow, brain and other organs.

This leads to metabolic acidosis, anemia, susceptibility to infection, bleeding, neurological disorders, gastrointestinal dysfunction, and other diseases.