Autosomal Recessive Congenital METHEMOGLOBINEMIA

Summarized by Plex Health
Last Updated: 02 May 2022

Autosomal recessive congenital methemoglobinemia is an inherited problem that primarily affects the function of red cell. People with type I have cyanosis from birth and might experience weak point or shortness of breath pertaining to the shortage of oxygen in their cells. People with type II have cyanosis as well as extreme neurological issues. After a couple of months of obviously normal development, children with type II develop severe brain dysfunction, uncontrolled muscle contracting, and involuntary arm or leg motions; also, the size of their head remains small and does not grow in percentage with their body. People with type II have serious intellectual impairment; they can recognize faces and usually squeal yet talk no words. People with autosomal recessive congenital methemoglobinemia type I have a normal life expectancy, yet people with type II often do not endure past very early adulthood.

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