From: Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study
Diagnoses (n) | |
---|---|
Lysosomal | I cell disease (1), alpha-Mannosidosis (1), MLD (3), MPS1 (4), MPS2 (1), MPS3 (1), NCL congenital [19] (3), NCL3 (4), NPC (3), Salla disease (1), Sandhoff disease (1) |
Mitochondrial | Leigh disease (3) |
Peroxisomal | Adrenoleukodystrophy X-linked (2) |
Organic aciduria | 2-methylbutyryl CoA dehydrogenase deficiency [20]a (1), glutaric aciduria (1), L2 hydroxy glutaric aciduria (2), methyl malonic aciduriab (2), multiple carboxylase deficiency (2), propionic aciduria (3) |
Fatty acid beta oxidation | MTP (2), MCAD (2), VLCAD (1), unspecified (1) |
Urea cycle | CPS1 (3), OCT (1) |
Other | Galactosemia (4), Unspecified intermediate metabolism (2) |
Neurodegenerative, specified | Ataxia teleangiectasia (1), Cockayne syndrome (2), megaloencephalic leukoencephalopathy with subcortical cysts (1), microphthalmia brain atrophy disease [22] (3), pontocerebellar hypoplasia-infantile spinal muscular atrophy [23] (1), Schinzel Gideon syndrome (2) |
Neurodegenerative, unspecified | Mainly affecting: basal ganglia (1), cerebellum (8), cerebellum and basal ganglia (1), cerebellum and brain stem (1), cerebral cortex (3), cerebral white matter (3) |
Infectious | HIV encephalopathy (2) |