<unk>  has an autosomal recessive pattern of inheritance.<unk>  is inherited in an autosomal recessive fashion. Such diseases are caused by an error in a single DNA gene. Because the disease is autosomal, the defective gene is found on an autosome (chromosome 6), rather than the sex-linked 23rd chromosome. Being a recessive disorder, the disease can only be inherited from both parents since the disorder can only occur when a person has two copies of the gene. It is believed that the genetic basis for<unk>  resides in the SSADH human ALDH5A1 gene, which maps to chromosome 6p22. More than 47 disease-causing mutations have been identified for the disorder, all of which lead to absence of functional proteins through missense, nonsense, or splicing errors; no hotspots have been identified. Consanguinity is frequent; this suggests the rare occurrence of disease-causing alleles in the general population.
Succinic semialdehyde dehydrogenase deficiency
Pyruvate dehydrogenase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Malonyl-CoA decarboxylase deficiency
Glutaminase deficiency
Pyruvate kinase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency