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DefinitionAlkaline 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...
DefinitionAlkaptonuria is a rare, lifelong, inherited disease of body chemistry. Your body normally breaks down the amino acids phenylalanine and tyrosine into smaller safe parts. One...
DefinitionAlpha thalassemia-intellectual disability syndrome—often shortened to ATR-X syndrome—is a rare genetic condition that mainly affects boys. It combines two core features: alpha-thalassemia (a mild shortage or...
DefinitionAlpha thalassemia is a group of inherited blood disorders. They happen when the body cannot make enough alpha globin, a protein that helps build hemoglobin. Hemoglobin...
DefinitionAlpha thalassemia–X-linked intellectual disability syndrome, often shortened to ATR-X syndrome, is a rare genetic condition that mostly affects boys. It is caused by a change (mutation)...
DefinitionAlpha-2-plasmin inhibitor deficiency (also written as α2-antiplasmin deficiency) is a rare bleeding disorder. In healthy blood, clots form to stop bleeding and then slowly dissolve when...
DefinitionAlpha-methyl-acetoacetyl-CoA thiolase deficiency is a rare, inherited metabolic disorder. It is also called beta-ketothiolase (BKT) deficiency or ACAT1 deficiency. In this condition, a mitochondrial enzyme called...
DefinitionAlpha-methylacetoacetic aciduria is a rare, inherited metabolic disorder. The body cannot use a key enzyme (called mitochondrial acetoacetyl-CoA thiolase, also called beta-ketothiolase or ACAT1). Because this...
DefinitionAlpha-methylacetoacetic aciduria is a rare, inherited metabolic disease. The body lacks enough activity of an enzyme called mitochondrial acetoacetyl-CoA thiolase (also called beta-ketothiolase or ACAT1). Because...
DefinitionAlpha-sarcoglycan–related limb-girdle muscular dystrophy R3 is a rare, inherited muscle disease caused by harmful changes (variants) in the SGCA gene. SGCA makes alpha-sarcoglycan, a protein that...
DefinitionAlpha-sarcoglycanopathy is a rare, inherited muscle-wasting disease caused by biallelic (recessive) mutations in the SGCA gene, which encodes the α-sarcoglycan protein. α-Sarcoglycan sits in the sarcoglycan...
