MCT8-specific thyroid hormone cell-membrane transporter deficiency (also called Allan-Herndon-Dudley syndrome, AHDS). MCT8 deficiency is a rare, inherited ...

MCT8 deficiency is a rare, inherited brain-development disorder caused by changes (variants) in a gene called SLC16A2. This gene makes a special “door” or ...

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 ...

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 ...

Homogentisic acid oxidase deficiency is a rare, inherited metabolic disorder. It happens when the body cannot make enough of an enzyme called homogentisate ...

Homogentisate 1,2-dioxygenase (HGD) deficiency is a rare, inherited condition in which the body cannot fully break down the amino acids tyrosine and ...

Hereditary ochronosis is a rare genetic condition that happens when the body cannot break down a natural chemical called homogentisic acid (HGA). This problem ...

Alkaptonuria is a rare, lifelong, inherited disease of body chemistry. Your body normally breaks down the amino acids phenylalanine and tyrosine into smaller ...

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 ...

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 ...

Alkaline Ceramidase-3 (ACER3) Deficiency is a very rare, inherited white-matter brain disease (a leukodystrophy) that starts in infancy. A change (mutation) in ...

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 ...

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 ...

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 ...

Glucosyltransferase 2 deficiency is a rare, inherited condition where a small “assembly-line” step for building sugar chains on proteins does not work ...

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 ...

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 ...

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 ...

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 ...

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 ...