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Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome Table of Contents SYNONYMS HGPRT deficiency HPRT deficiency hypoxanthine-guanine phosphoribosyl transferase deficiency Lesch-Nyhan disease Introduction Lesch-Nyhan syndrome is an exceptionally rare congenital disorder characterized by a deficiency or
Alport Syndrome
Alport Syndrome Table of Contents Introduction Alport syndrome is a collective term used to describe a group of diverse inherited disorders that primarily impact the basement membrane of the kidneys
X-linked Severe Combined Immunodeficiency
X-linked Severe Combined Immunodeficiency Table of Contents Introduction X-linked Severe Combined Immunodeficiency (X-linked SCID) is a rare genetic disorder that primarily affects males. This condition is characterized by a severe impairment
X-linked Ichthyosis
X-linked Ichthyosis Table of Contents Introduction X-linked Ichthyosis is a genetic skin disorder that primarily affects males. This condition stems from an inborn metabolic error characterized by a deficiency of the
Metachromatic Leukodystrophy (MLD)
Metachromatic Leukodystrophy (MLD) Table of Contents Synonyms ARSA deficiency Arylsulfatase A deficiency disease Cerebral sclerosis, diffuse, metachromatic form Cerebroside sulphatase deficiency disease diffuse brain sclerosis Greenfield disease metachromatic leukoencephalopathy MLD
Gitelman Syndrome
Gitelman Syndrome Table of Contents Other names: Familial hypokalemia-hypomagnesemia Gitelman’s syndrome GS Hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria Tubular hypomagnesemia-hypokalemia with hypocalcuria In vitro fertilization (IVF) and preimplantation genetic testing (PGT)
Maple Syrup Urine Disease (MSUD)
Maple syrup urine disease (MSUD) Table of Contents Other Names for This Condition BCKD deficiency Branched-chain alpha-keto acid dehydrogenase deficiency Branched-chain ketoaciduria Ketoacidemia MSUD Introduction Maple syrup urine disease (MSUD)
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
Hemophilia A
Hemophilia A Table of Contents Hemophilia A: An Overview Hemophilia A, classified as one of three types of hemophilia, is a relatively rare inherited blood disorder that affects the body’s
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
Hemophilia B
Hemophilia B Table of Contents Introduction to Hemophilia B: A Hereditary Bleeding Disorder Hemophilia B, previously referred to as Christmas disease, is an inherited bleeding disorder characterized by a deficiency
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
The Transformative Power of IVF and PGD for Single-Gene Diseases
The Transformative Power of IVF and PGD for Single-Gene Diseases Single-gene diseases are a group of genetic disorders caused by mutations in a single gene. These diseases can be very
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
Lactose intolerance
Lactose intolerance Table of Contents In vitro fertilization (IVF) and preimplantation genetic testing (PGT) are significant advancements in the realm of reproductive medicine and genetics, particularly for individuals at risk
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
Red Green Colourblindness
Red Green Colourblindness Table of Contents INHERITANCE Color vision deficiency typically arises from an inherited condition, meaning it is present at birth. The genes for red/green color deficiency are passed
Pseudohypoaldosteronism (PHA)
Pseudohypoaldosteronism (PHA) Table of Contents Pseudohypoaldosteronism (PHA) Overview: Understanding the Disorder Pseudohypoaldosteronism encompasses a range of disorders characterized by resistance to the hormone aldosterone. This results in low sodium levels
Ocular Albinism
Ocular Albinism Table of Contents INTRODUCTION Albinism refers to a group of genetic conditions characterized by a lack or reduction of pigment, which imparts color to the eyes, skin, and
Hunter Syndrome (MPS II)
Hunter Syndrome (MPS II) Table of Contents Alternate Terms for Hunter Syndrome (MPS II) Hunter Syndrome, a medical condition, is also known by several other names including: – Hunter Syndrome
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)
Familial hypercholesterolemia (FH)
Familial hypercholesterolemia (FH) Table of Contents Alternative Names Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation Introduction Familial Hypercholesterolemia (FH) is a genetic disorder that is inherited within
Chronic Granulomatous Disease, X-linked
Chronic Granulomatous Disease, X-linked Table of Contents Other Names for This Condition Autosomal recessive chronic granulomatous disease CGD Granulomatous disease, chronic X-linked chronic granulomatous disease In vitro fertilization (IVF) and
Choroideremia
Choroideremia Table of Contents Introduction Choroideremia represents a form of chorioretinal dystrophy linked to the X chromosome, marked by the widespread and advancing deterioration of the retinal pigment epithelium (RPE),
Becker Muscular Dystrophy
Becker Muscular Dystrophy Table of Contents Introduction Becker muscular dystrophy (BMD) is classified within a spectrum of muscular dystrophies — a cluster of hereditary conditions that lead to progressive muscle
Androgenetic Alopecia
Androgenetic Alopecia Table of Contents Introduction Androgenetic alopecia, a prevalent type of hair loss affecting both men and women, manifests differently in each gender. In men, it is often referred
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)
Advances in Genetic Testing for Single-Gene Disorders and Preimplantation Genetic Testing (PGT)
Single-gene disorders, which result from structural abnormalities or malformations in a single gene within an individual’s DNA chain, belong to a group of diseases that affect organs or tissues due
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
Factors Affecting In Vitro Fertilization (IVF) Treatment:
IVF, short for In Vitro Fertilization, is an assisted reproductive technology employed to assist couples grappling with fertility challenges in realizing their dream of becoming parents. In the IVF procedure,
What you need to know about In Vitro Fertilization (IVF):
In Vitro Fertilization (IVF) is a cutting-edge reproductive technology utilized to assist couples in achieving the dream of parenthood. Here are some crucial insights into IVF: What is IVF?: IVF
How long does in vitro fertilization (IVF) treatment take?
In vitro fertilization (IVF) is a method employed to assist couples in overcoming fertility challenges or individuals who aspire to start a family. The duration of IVF treatment can fluctuate