Multiple Peroxisomal Dysfunctions (MPD) is a term used to describe a group of rare genetic disorders characterized by the malfunction or absence of peroxisomes, which are cellular organelles involved in various metabolic processes. MPD encompasses a spectrum of disorders, including Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD).
Peroxisomes play a crucial role in cellular metabolism, particularly in the breakdown of very long-chain fatty acids, synthesis of bile acids, and detoxification of harmful substances. In MPD, the impaired peroxisomal function results in the accumulation of toxic substances within cells, leading to a wide array of symptoms affecting multiple organs and systems.
Typically, affected individuals present in infancy or early childhood with symptoms such as poor muscle tone, developmental delay, feeding difficulties, hearing and vision impairments, liver dysfunction, and bone abnormalities. Neurological symptoms may include seizures, intellectual disability, and progressive degeneration of the white matter in the brain. Growth retardation and distinctive facial features, including a high forehead, low-set ears, and round face, are also common in MPD.
Diagnosis of MPD involves a combination of clinical evaluation, biochemical tests, and genetic analysis. Treatment options remain supportive and focus on managing the symptoms and complications associated with the disorder. There is currently no cure for MPD, and the prognosis varies depending on the specific subtype and severity. The condition is typically life-limiting, with many infants and children succumbing to complications such as respiratory failure or liver dysfunction. However, advancements in medical care and supportive interventions have improved the survival and quality of life for individuals with MPD.
