Journal of pediatric endocrinology & metabolism : JPEM
Cure8 research brief
Why This Matters
NPC can present with symptoms that overlap gastrointestinal, pulmonary, or psychiatric disorders and may be under-recognized. LysoSM-509 and HDL abnormalities may help prompt earlier diagnosis in diverse presentations.
Who Should Pay Attention
Pediatric and adult clinicians, geneticists/metabolic specialists, families of affected children, and researchers studying biomarkers or NPC genetics.
Study Snapshot
Story typeResearch paper
Evidence typeResearch paper
Source depthJournal abstract
What To Know
This retrospective single-center series (14 genetically confirmed patients) summarizes the clinical diversity of Niemann-Pick disease type C (NPC).
The abstract highlights a wide phenotype range—neonatal cholestasis, pulmonary-predominant disease, juvenile neurodegeneration, psychiatric-onset, and IBD-like colitis—and notes that LysoSM-509 was elevated in all cases, supporting its use as a sensitive biomarker.
Low HDL cholesterol was common, and several novel pathogenic truncating variants were reported. The authors report that miglustat treatment was associated with apparent stabilization in some patients treated earlier, but sample size limits conclusions.
The report is grounded in the article abstract and presents observational findings from a small retrospective cohort. It does not provide randomized comparisons or definitive treatment effects.
Keep In Mind
Based on a retrospective single-center cohort (14 patients) described in the abstract. Observational data and small sample size limit treatment conclusions; biomarker findings (LysoSM-509 elevation) are presented as diagnostic signals in this cohort.
Source Details
Review the original publication for the complete reporting, methods, and context.
Research paper
Evidence type derived from source or registry metadata.
PublicationJournal of pediatric endocrinology & metabolism : JPEM
AuthorsHacer Basan, Berrak Bilginer Gürbüz, Aynur Küçükcongar Yavaş +7 more
InstitutionDepartment of Pediatric Metabolic Diseases, Ankara City Hospital, Ankara, Türkiye.
Study typeJournal article
Indexed viaPubMed
Source typeResearch paper
PublishedJun 23, 2026, 12:00 AM
Content availableJournal abstract
This Cure8 brief is based on source text from the linked article. Cure8 is informational only and is not a substitute for professional medical advice, diagnosis, or treatment.
C-Reactive Protein-to-Albumin Ratio in Pediatric Inflammatory Bowel Disease: Associations with Disease Activity and Comparison with C-Reactive Protein Alone
This paper evaluates CAR, a simple blood‑based biomarker, in children with IBD and finds it reflects disease severity and changes over time in pediatric Crohn’s disease. That matters because reliable, easy-to-measure...
The Role of Fecal Calprotectin in The Diagnosis and Severity of Ulcerative Colitis
Fecal calprotectin is a noninvasive stool biomarker used to detect intestinal inflammation and to help distinguish IBD from noninflammatory conditions.
Association of serological markers with endoscopic mucosal healing and disease activity in patients with inflammatory bowel disease: a retrospective study
Blood markers that correlate with endoscopic healing could help track inflammation noninvasively and may reduce the frequency of endoscopy if validated. For people with IBD, better blood-based tools could make monitoring...