Hereditary Coproporphyria (HCP) is an uncommon autosomal dominant disorder characterized by neurological and/or dermatological symptoms resulting from mutations in the CPOX gene. Successful management depends on precise diagnosis, biochemical control, and treatment adherence. Here we report the clinical course of a 39 years old male finally diagnosed with HCP, emphasizing the pivotal role of Hemin therapy and the maintenance treatment. The patient, afflicted by a history of urolithiasis and notable familial medical antecedents, initially manifested with abdominal distress needing opioid analgesia. Subsequent presentation with generalized tonic clonic seizures and neurological deterioration prompted extensive diagnostic scrutiny, including neuroimaging and biochemical assays, initially suggestive of acute intermittent porphyria (AIP). A key diagnostic indicator was the presence of dark urine. The laboratory results showed elevated levels of urinary aminolevulinic acid (ALA), porphobilinogen (PBG), total urinary porphyrins and total fecal porphyrins, both with a preponderance of coproporphyrin. Genetic analysis identified a novel pathogenetic variant (c.200_204del p.(Thr67LysfsTer36)) in the CPOX gene (NM_000097.7; LRG_1077), confirming HCP. Although the identified variant has not been previously reported, it presents criteria supporting evidence of pathogenicity. It is a null variant, absent from controls in public databases and showing co-segregation with disease in two affected family members. Administration of hemin therapy elicited notable clinical progress, accompanied by a decrease in urinary ALA and PBG levels. However, recurrent symptoms correlated with inadequate adherence to prescribed folic acid, vitamin B, and glucose. Longitudinal data illustrated fluctuating urinary porphyrin and PBG levels, strongly associated with treatment adherence. This case highlights the significance of hemin therapy in managing acute HCP episodes and stresses the crucial role of patient adherence to therapeutic protocols. Regular biochemical surveillance and patient education are imperative in preventing symptoms recurrence and enhancing quality of life. Biochemical monitoring is important to evaluate hemin therapy’s efficacy in acute management and the imperative of sustained maintenance therapy for symptomatology control. Additionally, genetic diagnosis is essential in familial screening and counseling, while the identification of a novel mutation highlights the ongoing importance of genetic research in elucidating the pathogenesis of HCP.