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Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked intellectual disability syndrome, nondeletion type or ATR-X syndrome, [1] is an X-linked recessive condition associated with a mutation in the ATRX gene. [2]
F78.A1 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. The 2023 edition of ICD-10-CM F78.A1 became effective on October 1, 2022. This is the American ICD-10-CM version of F78.A1 - other international versions of ICD-10 F78.A1 may differ.
There are a variety of disabilities affecting cognitive ability.This is a broad concept encompassing various intellectual or cognitive deficits, including intellectual disability (formerly called mental retardation), deficits too mild to properly qualify as intellectual disability, various specific conditions (such as specific learning disability), and problems acquired later in life through ...
X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability. As with most X-linked disorders, males are more heavily affected than females. [1] Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms.
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), [3] and formerly mental retardation (in the United States), [4] [5] [6] is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood.
Causes include excessive alcohol use (the most common cause of sideroblastic anemia), pyridoxine deficiency (vitamin B 6 is the cofactor in the first step of heme synthesis [8]), lead poisoning [9] and copper deficiency. [10] Excess zinc [11] can indirectly cause sideroblastic anemia by decreasing absorption and increasing excretion of copper.
Though only definitively diagnosable by genetic sequence testing, including a G band analysis, ATR-16 syndrome may be diagnosed from its constellation of symptoms. It must be distinguished from ATR-X syndrome, a very similar disease caused by a mutation on the X chromosome, and cases of alpha-thalassemia that co-occur with intellectual disabilities with no underlying genetic relationship.
Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.