SUS will have procedure to detect rare disease in children – 05/16/2023 – Health
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The Ministry of Health reported this Tuesday (16) that the SUS (Unified Health System) will have a new procedure for identifying classic homocystinuria in children in the first years of life.
The disease can lead to impairment of the ocular, skeletal, and vascular systems and cause intellectual delay or disability.
The incorporation was confirmed after analysis by Conitec (National Commission for the Incorporation of Technologies in the SUS). The procedure must be offered on the public network within 180 days after publication of an ordinance in the Federal Official Gazette.
Classic homocystinuria is caused by a deficiency in the production of cystathionine-beta-synthetase, an enzyme that is essential to prevent the accumulation of homocysteine at toxic levels that are harmful to health. The accumulation of homocysteine can cause cardiovascular problems, allow the formation of clots in the blood vessels and damage the arteries.
The exam is part of a set of preventive actions responsible for early identification of metabolic, genetic, enzymatic and endocrinological diseases. The objective is to allow the treatment to be carried out in a timely manner, avoiding sequelae and even death.
Currently, neonatal screening in the SUS includes the detection of a series of diseases through the heel prick test.
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