4.2
Disorders of organelle biogenesis, dynamics and interaction
This group consists of heterogeneous disorders which affect the biogenesis and interaction of organelles and are usually difficult to reconduct to a specific metabolic pathway. These disorders can affect mitochondria, peroxisomes, lysosomes, organelle interplay and vesicular trafficking. Such disorders can appear during infancy or early childhood, but the age of onset can vary greatly. Between the most common symptoms it is possible to find cardiomyopathy, neutropenia, growth delay, peripheral neuropathy and intellectual disability.
SERAC1 deficiency (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh- like…
OPA1 deficiency (Optic atrophy type 1, dominant; Behr syndrome, recessive)…
Peroxin 1 deficiency (Peroxisome biogenesis disorder 1A, Zellweger syndrome; peroxisome…
Mucopolysaccharidosis-plus syndrome Arthrogryposis-renal dysfunction-cholestasis syndrome type 1 Hypomyelinating leukodystrophy type…
EMC1 deficiency Acyl-CoA-binding domain-containing protein 5 deficiency BAP31 deficiency (Deafness,…
Conserved oligomeric Golgi complex subunit 1 deficiency (COG1-CDG) Conserved oligomeric…
