Targeted NGS-based gene panel for potentially treatable inherited metabolic diseases or WES.Specific enzymatic assays or measurement of specific biochemical biomarkers: Plasma cholestanol; acid ceramidase or hexosaminidase A activity levels in blood leukocytes;GBE activity in leukocytes or other tissues;Plasma very-long chain fatty acids.Screening for multisystemic involvement signs. The gene discussed is ASAH1; the disease is metabolic disease.