Sodium taurocholate cotransporter polypeptide deficiency combined with novel PYGL mutations in glycogen storage disease type VI: a rare case report - 02/03/26

Doi : 10.1016/j.clinre.2026.102801

Meifen Wang ^1,^{^{#
These authors contributed equally to the paper.}}, Mingying Wang ^2,^{^{#
These authors contributed equally to the paper.}}, Juan Li ², Rui Chen ¹, Zhongrui Bi ¹, Hongchao Jiang ^3,^⁎ , Jiwei Li ^4,^4.1,^⁎

¹ Department of Infectious Diseases

² Department of Gastroenterology

³ Department of Clinical Research Center

⁴ Department of Pathology, Kunming Children’s Hospital (Children's Hospital Affiliated of Kunming Medical University), Kunming, Yunnan 650118, China

^4.1 Yunnan Province Clinical Research Center for Children’s Health and Disease, Kunming, Yunnan 650118, China

^⁎ Corresponding author: Hongchao Jiang, Chief physician, Kunming Children’s Hospital (Children's Hospital Affiliated of Kunming Medical University), Kunming, Yunnan 650118, China Kunming Children’s Hospital (Children's Hospital Affiliated of Kunming Medical University) Kunming Yunnan 650118 China ^⁎⁎ Jiwei Li, Deputy chief physician, Kunming Children’s Hospital (Children's Hospital Affiliated of Kunming Medical University), Yunnan Province Clinical Research Center for Children’s Health and Disease, Kunming, Yunnan 650118, China Kunming Children’s Hospital (Children's Hospital Affiliated of Kunming Medical University) Yunnan Province Clinical Research Center for Children’s Health and Disease Kunming Yunnan 650118 China

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ABSTRACT

Both Sodium Taurocholate Cotransporting Polypeptide Deficiency (NTCPD) and Glycogen Storage Disease Type VI (GSD-VI) are autosomal recessive (AR) genetic disorders that affect liver metabolism in newborns. NTCPD is primarily caused by mutations in the Solute Carrier Family 10 Member 1 (SLC10A1) gene, resulting in decreased bile acid transport function, while GSD-VI is caused by mutations in the phosphorylase glycogen liver (PYGL) gene, leading to a deficiency of liver glycogen phosphorylase. Both diseases are rare, and there have been no previous reports of their coexistence in a single patient. This case report details the rare occurrence of NTCP and GSD-VI in a 2-year-11-month-old female child. The patient presented with mild jaundice, hepatomegaly, and growth retardation. After 1 year and 6 months of treatment and follow-up, the patient's liver function and growth showed significant improvement. This case highlights the importance of comprehensive genetic analysis in diagnosing complex metabolic disorders.

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Keywords : Sodium taurocholate cotransporter polypeptide deficiency, SLC10A1 gene, Glycogen Storage Diseases, PYGL gene, transient cholestatic hepatitis