Bartter Syndrome
Bartter Syndrome Table of Contents Understanding Bartter Syndrome: Causes, Symptoms, and Variants Bartter syndrome is a rare autosomal recessive disorder that affects the reabsorption of salt in the body, leading
Sickle Cell Anemia
Sickle Cell Anemia Table of Contents Introduction Sickle cell anemia is a specific type of inherited blood disorder falling under the broader category known as sickle cell disease. This condition
Cystic Fibrosis
CYSTIC FIBROSIS Table of Contents https://www.youtube.com/watch?v=Jjla7LHQtR4 Introduction: Cystic fibrosis (CF) is a genetically inherited disease and is considered the most prevalent life-threatening recessive genetic chronic condition, primarily affecting the respiratory
Spinal Muscular Atrophy (SMA)
Spinal Muscular Atrophy (SMA) Table of Contents Other names 5q SMA Proximal SMA SMA SMA-associated SMA Spinal amyotrophies Spinal amyotrophy Spinal muscle degeneration Spinal muscle wasting In vitro fertilization (IVF)
Thalassemia
Thalassemia Table of Contents Understanding Thalassemia: Types, Causes, and Symptoms Introduction: Thalassemia, derived from the Greek words “thalassa” (sea) and “haima” (blood), is a group of inherited blood disorders characterized
Homocystinuria
Homocystinuria Table of Contents Other Names for This Condition Cystathionine beta synthase deficiency Homocysteinemia In vitro fertilization (IVF) and preimplantation genetic testing (PGT) are significant advancements in the realm of
Tay Sachs Disease
Tay-Sachs Disease Table of Contents Other name for this condition: B variant GM2 gangliosidosis GM2 gangliosidosis, type 1 HexA deficiency Hexosaminidase A deficiency Hexosaminidase alpha-subunit deficiency (variant B) Sphingolipidosis, Tay-Sachs
Mucopolysaccharidosis
Mucopolysaccharidosis (MPS) Table of Contents Synonyms MPS MPS disorder Understanding Mucopolysaccharidoses (MPS) Mucopolysaccharidoses (MPSs) represent a rare group of disorders characterized by deficiencies in specific enzymes crucial for breaking down
Canavan Disease
Canavan Disease Table of Contents Alternate names ASPA deficiency aspartoacylase deficiency Canavan’s leukodystrophy Canavan-Van Bogaert-Bertrand disease spongy degeneration of the central nervous system Van Bogaert-Bertrand syndrome ACY2 deficiency Aminoacylase 2
Krabbe Disease
Krabbe Disease Table of Contents Other names for Krabbe disease Diffuse globoid body sclerosis Galactocerebrosidase (GALC) Deficiency Galactocerebroside Beta-Galactosidase Deficiency Galactosylceramidase Deficiency Galactosylceramide beta-galactosidase deficiency Galactosylceramide Lipidosis Galactosylsphingosine lipidosis GALC
Pompe Disease
Pompe Disease Table of Contents OTHER NAMES Acid maltase deficiency Acid maltase deficiency disease Alpha-1,4-glucosidase deficiency AMD Deficiency of alpha-glucosidase GAA deficiency Glycogen storage disease type II Glycogenosis type II
Niemann-Pick Disease
Niemann-Pick disease Table of Contents Other Names for This Condition Lipid histiocytosis Neuronal cholesterol lipidosis Neuronal lipidosis NPD Sphingomyelin lipidosis Sphingomyelin/cholesterol lipidosis Sphingomyelinase deficiency Understanding ASMD: A Comprehensive Overview of
Refsum Disease
Refsum Disease Table of Contents Alternate Terminology for Refsum Disease What are various terms and acronyms used to refer to Refsum Disease? Refsum Disease, a distinct medical condition, is known
Gaucher Disease
Gaucher Disease Table of Contents Other Names Cerebroside lipidosis syndrome Gaucher splenomegaly Gaucher syndrome Gaucher’s disease Gauchers disease GD Glucocerebrosidase deficiency Glucocerebrosidosis Glucosyl cerebroside lipidosis Glucosylceramidase deficiency Glucosylceramide beta-glucosidase deficiency
Galactosemia
Galactosemia Table of Contents Alternative Names Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency; GALT; GALK; GALE; Epimerase deficiency galactosemia; GALE deficiency; Galactosemia type III; UDP-galactose-4; Duarte variant UDP-galactose-4-epimerase
Fructose Intolerance
Fructose Intolerance Table of Contents Other Names for This Condition ALDOB deficiency Aldolase B deficiency Fructose aldolase B deficiency Fructose intolerance Fructose-1,6-biphosphate aldolase deficiency Fructose-1-phosphate aldolase deficiency Fructosemia In vitro
Farber Disease
Farber Disease Table of Contents Other names Acid ceramidase deficiency Farber disease Farber lipogranulomatosis Acylsphingosine deacylase deficiency Ceramidase deficiency Farber-Uzman syndrome In vitro fertilization (IVF) and preimplantation genetic testing (PGT)
Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz syndrome Table of Contents Alternative Terminology for This Medical Condition Deficiency of 7-dehydrocholesterol reductase RSH Syndrome Smith-Lemli-Opitz Syndrome SLOS Condition In vitro fertilization (IVF) and preimplantation genetic testing (PGT)
Comprehensive Guide to Diagnosing Cystic Fibrosis: Methods and Considerations
Diagnosis Methods for Cystic Fibrosis Cystic fibrosis is diagnosed through a series of tests and evaluations to confirm the presence of this genetic disorder. Early diagnosis of cystic fibrosis is