Condition Lookup

Gaucher disease

Specialty: Genetics

Category: Metabolic and Storage Disorders

Sub-category: Lysosomal Storage Diseases

Symptoms:
enlarged spleen and liver; bone pain; anemia; easy bruising; fatigue; delayed growth in children; neurological complications in severe forms

Root Cause:
Deficiency of the enzyme glucocerebrosidase, leading to accumulation of glucocerebroside in lysosomes of macrophages.

How it's Diagnosed: videos
Blood tests (glucocerebrosidase enzyme activity, genetic testing for GBA mutations), imaging (MRI, bone density scans), and bone marrow or liver biopsy (rarely used).

Treatment:
Enzyme replacement therapy (ERT), substrate reduction therapy (SRT), and supportive treatments (e.g., blood transfusions, pain management).

Medications:
Enzyme replacement therapies (e.g., imiglucerase , velaglucerase alfa, taliglucerase alfa) help replace the deficient enzyme. Substrate reduction therapies (e.g., eliglustat, miglustat ) reduce the accumulation of harmful substrates.

Prevalence: How common the health condition is within a specific population.
Estimated to affect 1 in 50,000 to 1 in 100,000 people worldwide; more common in individuals of Ashkenazi Jewish descent.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of Gaucher disease, Ashkenazi Jewish ancestry, having inherited mutations in the GBA gene.

Prognosis: The expected outcome or course of the condition over time.
With appropriate treatment, non-neurological forms (Types 1 and 3) often have a good prognosis. Neurological forms (Type 2) are more severe and have a poor prognosis.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Bone crises, fractures, avascular necrosis, pulmonary hypertension, Parkinson's disease (increased risk), and severe neurological deterioration (Type 2).

Fabry disease

Specialty: Genetics

Category: Metabolic and Storage Disorders

Sub-category: Lysosomal Storage Diseases

Symptoms:
pain in hands and feet (acroparesthesia); angiokeratomas (small, dark spots on skin); decreased ability to sweat; corneal opacity; hearing loss; progressive kidney and heart issues

Root Cause:
Deficiency of alpha-galactosidase A enzyme, leading to accumulation of globotriaosylceramide (GL-3 or Gb3) in various tissues.

How it's Diagnosed: videos
Enzyme activity assay (low alpha-galactosidase A levels), genetic testing for GLA mutations, and organ evaluations (kidney and heart function).

Treatment:
Enzyme replacement therapy (e.g., agalsidase alfa, agalsidase beta), chaperone therapy (e.g., migalastat for amenable mutations), and management of organ complications.

Medications:
Enzyme replacement therapies (e.g., agalsidase alfa, agalsidase beta) replace the deficient enzyme. Migalastat , a pharmacological chaperone, stabilizes certain mutant enzymes.

Prevalence: How common the health condition is within a specific population.
Estimated to affect 1 in 40,000 to 1 in 60,000 males; females are variably affected due to X-linked inheritance.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of Fabry disease, inheritance of a mutation in the GLA gene.

Prognosis: The expected outcome or course of the condition over time.
Lifespan can be improved with early diagnosis and treatment; untreated individuals may develop severe kidney, cardiac, and cerebrovascular complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Progressive kidney disease, heart failure, arrhythmias, strokes, and peripheral nerve damage.

Pompe disease

Specialty: Genetics

Category: Metabolic and Storage Disorders

Sub-category: Lysosomal Storage Diseases

Symptoms:
muscle weakness; respiratory difficulties; enlarged heart (in infantile-onset); poor feeding; delayed motor milestones; progressive muscle wasting in late-onset form

Root Cause:
Deficiency of the enzyme acid alpha-glucosidase (GAA), leading to glycogen accumulation in lysosomes, especially in muscle cells.

How it's Diagnosed: videos
Blood tests (low GAA enzyme activity), genetic testing for GAA mutations, muscle biopsy, and imaging or electromyography for muscle evaluation.

Treatment:
Enzyme replacement therapy (ERT) with alglucosidase alfa, respiratory support, and physical therapy.

Medications:
Alglucosidase alfa (a recombinant human acid alpha-glucosidase) is used for enzyme replacement therapy. Supportive treatments include respiratory aids and physical therapy.

Prevalence: How common the health condition is within a specific population.
Estimated at 1 in 40,000 worldwide; incidence varies by population.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of Pompe disease, inheritance of mutations in the GAA gene.

Prognosis: The expected outcome or course of the condition over time.
Infantile-onset Pompe disease has a poor prognosis without treatment. With ERT, survival improves but complications persist. Late-onset disease has a variable progression.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Respiratory failure, progressive muscle weakness, cardiomyopathy (in infantile form), and reduced mobility.

Niemann-Pick disease

Specialty: Genetics

Category: Metabolic and Storage Disorders

Sub-category: Lysosomal Storage Diseases

Symptoms:
enlarged spleen and liver; difficulty feeding; progressive neurological decline; poor muscle tone; seizures; difficulty walking; developmental delays; lung problems

Root Cause:
Deficiency of acid sphingomyelinase enzyme (Types A and B) or impaired intracellular lipid trafficking (Type C), leading to accumulation of sphingomyelin or cholesterol in tissues.

How it's Diagnosed: videos
Enzyme activity assay for acid sphingomyelinase (Types A and B), genetic testing (SMPD1 for Types A/B, NPC1/NPC2 for Type C), cholesterol storage studies, and imaging (liver and spleen evaluation).

Treatment:
Symptomatic treatments for neurological symptoms and organ damage; miglustat is used for Niemann-Pick Type C; supportive care includes physical therapy and nutrition management.

Medications:
Miglustat (a substrate reduction therapy) is used for Niemann-Pick Type C. Other treatments include symptom management medications for seizures and lung issues.

Prevalence: How common the health condition is within a specific population.
Estimated at 1 in 150,000 to 1 in 250,000; higher prevalence in certain populations, such as Ashkenazi Jews (Type A).

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of Niemann-Pick disease, inherited mutations in SMPD1 (Types A/B) or NPC1/NPC2 (Type C).

Prognosis: The expected outcome or course of the condition over time.
Prognosis varies by type

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe neurological damage, liver failure, lung disease, and premature death in severe forms.

Mucopolysaccharidoses (MPS)

Specialty: Genetics

Category: Metabolic and Storage Disorders

Sub-category: Lysosomal Storage Diseases

Symptoms:
coarse facial features; enlarged spleen and liver; developmental delays; joint stiffness; hearing loss; corneal clouding; frequent respiratory infections

Root Cause:
Deficiencies in enzymes needed to break down glycosaminoglycans (GAGs), leading to their accumulation in cells and tissues. Specific enzymes are deficient in each MPS type (e.g., alpha-L-iduronidase in Hurler syndrome, iduronate-2-sulfatase in Hunter syndrome).

How it's Diagnosed: videos
Urine tests for excessive GAGs, enzyme activity assays for specific enzyme deficiencies, genetic testing for confirmation.

Treatment:
Enzyme replacement therapy (ERT) for specific types (e.g., laronidase for Hurler syndrome, idursulfase for Hunter syndrome), hematopoietic stem cell transplantation (HSCT) in severe cases, and supportive treatments for symptoms.

Medications:
Laronidase (Hurler syndrome) and idursulfase (Hunter syndrome) are ERTs that replace deficient enzymes. Symptomatic medications manage issues like joint pain and respiratory problems.

Prevalence: How common the health condition is within a specific population.
Varies by type; overall prevalence is estimated at 1 in 25,000 births worldwide.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of MPS, inherited mutations in genes encoding lysosomal enzymes.

Prognosis: The expected outcome or course of the condition over time.
Varies widely depending on MPS type and treatment; with ERT and HSCT, outcomes have improved but complications often persist.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Neurological decline, heart and respiratory failure, skeletal abnormalities, and reduced life expectancy in severe cases.