LTBL (Leukoencephalopathy with Thalamus and Brainstem involvement and high Lactate)

Intermediaire – juveniele cystinose

Infantiele cystinose

Ketolysis Defecten(CTX)

Infantile neuroaxonal dystrophy (PLA2G6)

Lesch-Nyhan syndrome – NL

LPIN1 lipid myopathy

LCAT-deficiency (Norum disease and Fish-eye disease)

Inborn hypertriglyceridemia and lipodystrophy syndromes

ß-ketothiolase deficiency