Final answer:
Peroxisomal biogenesis disorders are autosomal recessive disorders caused by (b) genetic mutations, leading to enzyme deficiencies and symptoms such as developmental regression. They are part of a broader category of metabolic disorders caused by inherited mutations that disrupt normal enzymatic functions.
Step-by-step explanation:
Peroxisomal Biogenesis Disorders
Peroxisomal biogenesis disorders are autosomal recessive (AR) disorders caused by genetic mutations. Infants with these disorders often exhibit a range of symptoms, primarily stemming from enzyme deficiencies. This lack of enzymes leads to the toxic buildup of substances or the failure to synthesize essential compounds required for normal cell function. Accordingly, these disorders can manifest in symptoms such as enzyme deficiencies, developmental regression, vision and hearing problems, and abnormalities in bone development, among other health issues.
As metabolic disorders like these are genetic in nature, they result from inherited mutations in genes related to metabolism. These mutations can be traced back many generations. Enzymatic deficiencies, such as those found in orotic aciduria and pyruvate dehydrogenase complex deficiency (PDCD), can lead to serious health conditions, including developmental delays and neurological issues.
Moreover, enzymes affected by these genetic disorders are not limited to metabolism but can include a myriad of physiological processes. For example, errors in tyrosine metabolism can lead to conditions such as alkaptonuria and tyrosinosis, which can have severe physical manifestations.
Ultimately, treatment options for peroxisomal biogenesis disorders may include dietary modifications, vitamin supplementation, and even experimental approaches like gene therapy. However, due to the nature of enzymatic deficiencies and the crucial role enzymes play in metabolic pathways, these disorders can be challenging to manage.