(E70) Disorders of aromatic amino-acid metabolism

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77 977 in individuals diagnosis disorders of aromatic amino-acid metabolism confirmed
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1 374 deaths with diagnosis disorders of aromatic amino-acid metabolism
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2% mortality rate associated with the disease disorders of aromatic amino-acid metabolism

Diagnosis disorders of aromatic amino-acid metabolism is diagnosed Men are 9.16% more likely than Women

42 558

Men receive the diagnosis disorders of aromatic amino-acid metabolism

794 (1.9 %)

Died from this diagnosis.

100
95
90
85
80
75
70
65
60
55
50
45
40
35
30
25
20
15
10
5
0
35 419

Women receive the diagnosis disorders of aromatic amino-acid metabolism

580 (1.6 %)

Died from this diagnosis.

Risk Group for the Disease disorders of aromatic amino-acid metabolism - Men and Women aged 0

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In Men diagnosis is most often set at age 0-29, 35-44, 55-74, 80-84, 90-94
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Less common in men the disease occurs at Age 30-34, 45-54, 75-79, 85-89, 95+Less common in women the disease occurs at Age 45-49, 60-64, 75-79, 95+
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In Women diagnosis is most often set at age 0-44, 50-59, 65-74, 80-94

Disease Features disorders of aromatic amino-acid metabolism

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Absence or low individual and public risk
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Disorders of aromatic amino-acid metabolism - what does this mean

Disorders of aromatic amino-acid metabolism are caused by genetic mutations that lead to deficiencies in enzymes involved in the metabolism of aromatic amino acids. these deficiencies can cause a range of symptoms, including neurological, gastrointestinal, and metabolic abnormalities.

What happens during the disease - disorders of aromatic amino-acid metabolism

Disorders of aromatic amino-acid metabolism are caused by a deficiency or defect in the enzymes responsible for the catabolism of the aromatic amino acids phenylalanine, tyrosine, and tryptophan. this leads to the accumulation of their metabolites in the body, which can cause a variety of symptoms, including cognitive and motor impairment, seizures, and behavioral problems.

Clinical Pattern

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How does a doctor diagnose

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Treatment and Medical Assistance

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9 Days of Hospitalization Required
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Average Time for Outpatient Care Not Established

Disorders of aromatic amino-acid metabolism - Prevention

Prevention of disorders of aromatic amino-acid metabolism involves ensuring adequate dietary intake of essential amino acids, ensuring proper absorption of dietary amino acids, and avoiding exposure to environmental toxins that may interfere with the metabolism of amino acids. additionally, regular monitoring of amino acid levels in the blood is recommended to detect any abnormalities in metabolism.

Specified forms of the disease

(E70.0) Classical phenylketonuria
(E70.1) Other hyperphenylalaninaemias
(E70.2) Disorders of tyrosine metabolism
(E70.3) Albinism
(E70.8) Other disorders of aromatic amino-acid metabolism
(E70.9) Disorder of aromatic amino-acid metabolism, unspecified