The disease-specific treatment consisted of Leucine restricted diet in a patient (rWGS_19) with HMG-CoA lyase deficiency (MIM #246450) and pancrelipase in a homozygous proband and her heterozygous parents for a pathogenic SPINK1 variant (rWGS_21). Here, SPINK1 is linked to 3-hydroxy-3-methylglutaric aciduria.