Specific symptom of phenylketonuria?

summary

Phenylketonuria is a genetic metabolic disease and a common amino acid metabolic disease. Due to the lack of enzymes in phenylalanine metabolism map, phenylalanine can not be converted into leucine, resulting in accumulation of phenylalanine and its ketones, esters, and a large number of excretion from urine. Ketonuria is caused by severe starvation or low blood glucose concentration of untreated diabetic people, which leads to the increase of fatty acid oxidation, acceleration of the production of a large amount of ethylene, and abnormal glucose, entering the citric acid cycle. Finally, a large number of ketones appear in the blood and urine. So ketonuria and phenylketonuria are different.

Specific symptom of phenylketonuria?

Ketonuria and phenylketonuria patients may have mental symptoms and some physical characteristics, such as rhythmic shaking movement, reflex jumping, increased muscle tension, severe patients can deal with cerebral palsy, some patients can be combined with epilepsy due to late stage, mostly manifested as infantile spasm, epilepsy can be accompanied by age changes.

About 80% of ketonuria patients have abnormal EEG, which can be manifested as high score, disordered rhythm, the vast majority of children have depression, hyperactivity, autism tendency and other mental and behavioral abnormalities. If not treated in time, it will eventually cause moderate acute severe mental retardation.

Phenylketoacetic acid is a genetic metabolic defect characterized by mental retardation. Children are generally normal at birth. If they are not treated as early as possible, 85% of the patients can develop to the level of idiocy and die before the age of three even if they have progressive mental retardation within three to four months.

matters needing attention

Nursing staff should cooperate with doctors, adhere to the quality, regular review, do not interrupt, this is the key to the success of the treatment, only standardized and correct treatment, scientific and reasonable diet, stable blood phenylalanine concentration, ketonuria and phenylketonuria children can grow up as healthy as children of the same age.