LIBRO + ANEXOS ERRORES INNATOS DEL METABOLISMO

Libro Blanco de las ACES Pediátricas 2024 56 ❚ 18 3. Invasive investigations – examples to perform/recommend and/or interpret include: a. Muscle biopsy for respiratory chain analysis (recommend) b. Liver biopsy for enzymology (recommend) c. Skin biopsy for fibroblast culture and enzymology d. Lumbar puncture for CSF neurotransmitters, glucose, catecholamines and amino acids e. Awareness of specific counselling for peri- and post-mortem sampling