Parents

Congenital disorders of glycosylation (CDGs) are a diverse group of inherited conditions arising from defects in how sugars "decorate" proteins and lipids. This crucial modification process, called glycosylation, plays a vital role in protein function and stability. When things go wrong in this sugar workshop, it can lead to a cascade of problems impacting various organs and systems. N-glycosylation detectives: A nifty blood test called serum transferring isoelectrofocusing serves as a first clue for N-glycosylation defects. Two key patterns emerge:  

Type 1: This pattern hints at issues with assembling and transferring sugar chains, often involving glitches in the cell's inner "kitchen" (cytosol) and its sugar assembly lines (endoplasmic reticulum).

Type 2: This pattern points to malfunctioning sugar processing stations in the Golgi apparatus, a crucial organelle for protein finishing touches.

These patterns act as initial roadmaps for further investigation, helping unravel the mysteries behind each individual's CDG journey.
Among type 2 CDGs, MAN1B1-CDG is one of the more frequent, with over 40 described cases reported in the literature.