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3rd March 2024
Autosomal recessive
Approximately 1000 different conditions have been identified to be inherited by an autosomal recessive pattern, and this often presents as a “metabolic disorder”. Examples include:
| Alkaptonuria | Homocystinuria |
| Wilson’s disease | Haemochromatosis |
| Thalassaemia* | Cystic fibrosis |
| Galactosemia | Gaucher’s syndrome |
| Phenylketonuria | Fanconi anaemia |
| Sickle cell anaemia | Familial Mediterranean fever |
| Autosomal recessive polycystic kidney disease (ARPCKD) | Gilbert’s syndrome |
| Spinocerebellar ataxia** | Congenital adrenal hyperplasia |
| Kartagener’s syndrome | Glycogen storage disorders |
| Spinal muscular atrophy | Pendred syndrome |
| Friedrich’s ataxia | Xeroderma pigmentosa |
| Congenital erythropoietic porphyria | Limb-girdle muscular dystrophy |
| Oculocutaneous albinism | Dubin-Johnson syndrome |
*Alpha thalassaemia’s inheritance is complex due to 2 genes contributing towards the formation of the α-globin chain.
**This only applies to certain types – Various types of spinocerebellar ataxia are inherited in an autosomal dominant pattern.
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