ACACA komt in 5 bronnen samen met ogen, oren en gehoor voor

…]. Diabetes mellitus is typically the first manifestation, often presenting in the first decade of life, followed by optic atrophy and sensorineural hearing loss. The neurodegeneration observed in these patients mirrors the β-cell destruction, as neurons are also highly dependent on proper ER and mitochondrial…

…rome (XLAS) (OMIM 301050) [ 9 ]. The phenotype is variable and includes progressive renal failure due to glomerulopathy associated with sensorineural hearing loss (SNHL) and ocular anomalies [ 96 ]. Impaired hearing is frequently detectable by late childhood or early adolescence in boys with XLAS. SNHL develops…

…270), an autosomal recessive disorder caused by mutations in the SLC19A2 gene. It is characterized by megaloblastic anemia, progressive sensorineural hearing loss, and diabetes with age of onset from infancy to adolescence [ 33 ]. The so-called Mitchell-Riley syndrome (OMIM #615710), another rare syndromic form…

…s. In myosin heavy chain 9 ( MYH9 )-related disease, hematuria can coexist with congenital macrothrombocytopenia and later proteinuria, sensorineural hearing loss, cataracts, or elevated liver enzymes [ 21 , 22 ]. Automated analyzers may underestimate platelet count and size because giant platelets are not reco…