MCT8 deficiency is a rare, X-linked genetic condition that mostly affects boys. A change (pathogenic variant) in the SLC16A2 gene damages a protein called MCT8, which is a “door” that normally lets ...
MCT8-specific thyroid hormone cell-membrane transporter deficiency (also called Allan-Herndon-Dudley syndrome, AHDS). MCT8 deficiency is a rare, inherited brain and hormone disorder. The problem sits ...
Allan–Herndon syndrome (AHDS) is a rare, X-linked genetic condition that affects how thyroid hormone gets into brain cells. The gene involved is SLC16A2, which makes a transporter protein called ...
Allan–Herndon–Dudley syndrome (AHDS) is a rare genetic brain and body disorder that starts before birth and shows up in early infancy. It happens because a specific protein called MCT8 (made by the ...
Homogentisic acid oxidase deficiency is a rare, inherited metabolic disorder. It happens when the body cannot make enough of an enzyme called homogentisate 1,2-dioxygenase (HGD). This enzyme sits in ...
Homogentisate 1,2-dioxygenase (HGD) deficiency is a rare, inherited condition in which the body cannot fully break down the amino acids tyrosine and phenylalanine. Because the HGD enzyme does not ...
Hereditary ochronosis is a rare genetic condition that happens when the body cannot break down a natural chemical called homogentisic acid (HGA). This problem is caused by changes (mutations) in a ...
ALG9-Congenital Disorder of Glycosylation (ALG9-CDG) is a rare, inherited disease that affects how the body builds sugar chains (called N-glycans) that are attached to many proteins. These sugar ...
Glucosyltransferase 2 deficiency is a rare, inherited condition where a small “assembly-line” step for building sugar chains on proteins does not work correctly. The body normally attaches a special ...
Glucosyltransferase-1 deficiency is a rare, inherited metabolic condition. It happens when a gene called ALG6 does not work properly. The ALG6 gene makes an enzyme (a tiny worker protein) in the ...
Mannosyltransferase-6 deficiency is a very rare, inherited condition that affects how the body builds sugar chains on proteins (a process called N-linked glycosylation). In healthy cells, an enzyme ...
Congenital disorders of glycosylation (CDG) are rare, inherited diseases in which the body has trouble attaching sugar chains (called glycans) to proteins and lipids. This “glycosylation” process ...
ALG3-CDG is a rare, inherited metabolic disease. It happens when a child receives two faulty copies of the ALG3 gene (one from each parent). The ALG3 gene makes an enzyme that adds a sugar unit ...
Mannosyltransferase 2 deficiency is a very rare, inherited condition. It happens when both copies of a gene called ALG2 do not work well. The ALG2 gene makes an enzyme that adds the sugar mannose to ...
Congenital Disorder of Glycosylation type 1i (CDG-1i) is a very rare, inherited metabolic disease. It happens because a small change (mutation) in a gene called ALG2 stops a cell enzyme from working ...
Congenital Disorders of Glycosylation (CDG) are a large group of rare, inherited conditions where the body has trouble attaching sugar chains (called glycans) to proteins and fats. This ...
ALG11-CDG is a rare, inherited disease that starts at birth or in early infancy. It happens because a child receives two non-working copies of a gene called ALG11 (one from each parent). The ALG11 ...
Congenital disorder of glycosylation type Ik is a rare, inherited disease that starts at birth. Doctors now call it ALG1-CDG because the problem is in a gene named ALG1. This gene makes an enzyme (a ...
Carbohydrate-deficient glycoprotein syndrome (CDG) is a group of rare, inherited conditions. In CDG, the body has trouble attaching sugar chains (called glycans) to proteins and fats. This process is ...
Alexander disease is a rare brain disorder. It belongs to a group of conditions called leukodystrophies. Leukodystrophies damage the white matter of the brain and spinal cord. White matter contains ...
