Related Experiment Video
Updated: May 10, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Sodium taurocholate cotransporter polypeptide deficiency combined with novel PYGL mutations in glycogen storage
Meifen Wang1, Mingying Wang2, Juan Li2
1Department of Infectious Diseases, Kunming children's hospital, Kunming, Yunnan 650118, China.
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.
Related Concept Videos
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Lysosomal Hydrolases
Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Inborn Errors of Metabolism
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

