ACER3 deficiency is a very rare, inherited brain white-matter disease. It starts in infancy and slowly gets worse over time. Children first stop gaining new skills and then lose skills they already ...
ACER3-related leukodystrophy is a very rare brain white-matter disease that starts in early childhood. It happens because of harmful changes (variants) in a gene called ACER3. This gene makes an ...
Alkaline Ceramidase-3 (ACER3) Deficiency is a very rare, inherited white-matter brain disease (a leukodystrophy) that starts in infancy. A change (mutation) in the ACER3 gene harms an enzyme called ...
Mannosyltransferase 7–9 deficiency refers to inherited errors in the early steps of building the N-glycan “starter” on a lipid carrier. Think of a conveyor belt that builds a 14-sugar tree before ...
Carbohydrate-Deficient Glycoprotein Syndrome Type 1L (CDG-IL / ALG9-CDG) is a rare, inherited disease. It happens when the ALG9 gene does not work well. This gene makes an enzyme that adds the simple ...
Congenital disorder of glycosylation type 1h (CDG-Ih, also called ALG8-CDG) is a rare, inherited condition that affects the way the body adds sugar chains to proteins. This sugar-adding process is ...
Carbohydrate-deficient glycoprotein syndrome type Ih (CDG-Ih)—also called ALG8-CDG—is a very rare, inherited disease that affects how the body builds sugar chains (glycans) on proteins. These sugar ...
ALG8-Congenital Disorder of Glycosylation (ALG8-CDG) is a rare, inherited disease. It happens when a child gets two faulty copies of the ALG8 gene—one from each parent. The ALG8 gene makes an enzyme ...
Congenital disorder of glycosylation caused by mutation in ALG6 is a rare inherited disease. It happens when both copies of a gene called ALG6 do not work well. The ALG6 gene makes an enzyme (a ...
Carbohydrate-deficient glycoprotein syndrome type Ic (ALG6-CDG) is a rare, inherited disease. It happens when a gene called ALG6 does not work properly. This gene normally helps your cells add small ...
ALG6–Congenital Disorder of Glycosylation (ALG6-CDG, CDG-Ic) is a rare, inherited condition. It happens when both copies of a gene called ALG6 do not work properly. The ALG6 gene makes an enzyme that ...
Carbohydrate-deficient glycoprotein syndrome type Id is a rare inherited disease. It affects the way the body adds sugar chains to proteins. This sugar-adding process is called N-glycosylation. It ...
Carbohydrate-deficient glycoprotein syndrome type II is a group of rare, inherited conditions where the body has trouble finishing the “sugar decorations” that are added to many proteins. These sugar ...
ALG2-congenital disorder of glycosylation (ALG2-CDG) is a very rare, inherited condition that affects how the body builds sugar “labels” on proteins (this process is called N-linked glycosylation). ...
Mannosyltransferase 8 deficiency—the condition more precisely known as ALG12-congenital disorder of glycosylation (ALG12-CDG, formerly CDG-Ig). Inside our cells is a factory called the endoplasmic ...
Congenital disorder of glycosylation type 1g is a very rare, inherited disease that affects how the body adds sugar chains to proteins. This sugar-adding process is called N-glycosylation. In ...
ALG12-CDG (CDG-Ig) is a rare, inherited disease that affects how the body adds sugar chains to proteins. This sugar-adding process is called glycosylation. In ALG12-CDG, a gene named ALG12 does not ...
Carbohydrate-deficient glycoprotein syndrome type Ip is a very rare, inherited metabolic disease. It affects how the body attaches sugar chains to proteins—a process called N-linked glycosylation. In ...
Mannosyltransferase 1 deficiency is a rare, inherited metabolic disease. It affects the way the body builds sugar chains on proteins. These sugar chains are called N-linked glycans. They help many ...
Congenital disorders of glycosylation (CDG) are rare, inherited conditions where the body has trouble attaching sugar chains (“glycans”) to proteins and sometimes to fats. This “sugar-adding” step is ...
