Condition Lookup
Category:
Metabolic and Storage Disorders
Number of Conditions: 12
Maple syrup urine disease
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Inborn Errors of Metabolism
Symptoms:
sweet-smelling urine; poor feeding; vomiting; lethargy; developmental delay; seizures; ketoacidosis; hypotonia
Root Cause:
Deficiency in branched-chain alpha-keto acid dehydrogenase complex, leading to the accumulation of leucine, isoleucine, and valine in the blood and tissues.
How it's Diagnosed: videos
Newborn screening, plasma amino acid analysis showing elevated branched-chain amino acids, genetic testing for mutations in BCKDHA, BCKDHB, or DBT genes.
Treatment:
Dietary restriction of branched-chain amino acids (leucine, isoleucine, valine), supplementation with a specialized medical formula, and emergency intervention during metabolic crises with intravenous fluids and glucose.
Medications:
Thiamine (a cofactor for the defective enzyme) may be tried in thiamine-responsive forms of MSUD.
Prevalence:
How common the health condition is within a specific population.
Rare, affecting approximately 1 in 185,000 newborns worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Consanguinity, family history of MSUD, genetic inheritance in an autosomal recessive pattern.
Prognosis:
The expected outcome or course of the condition over time.
Favorable with early diagnosis and strict metabolic control; without treatment, severe neurologic damage or death can occur.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Intellectual disability, neurological crises, coma, metabolic acidosis, and death in untreated cases.
Galactosemia
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Inborn Errors of Metabolism
Symptoms:
jaundice; vomiting; diarrhea; poor feeding; failure to thrive; lethargy; sepsis; cataracts
Root Cause:
Deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT), leading to toxic accumulation of galactose-1-phosphate and galactose.
How it's Diagnosed: videos
Newborn screening, measuring GALT enzyme activity in red blood cells, genetic testing, and elevated galactose-1-phosphate levels in blood.
Treatment:
Lifelong dietary restriction of galactose by avoiding lactose-containing foods (e.g., milk, dairy).
Medications:
No specific medications; dietary management is the mainstay of treatment.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 30,000 to 60,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, autosomal recessive inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Good with early dietary management, but long-term complications like learning disabilities and ovarian insufficiency are possible.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Intellectual disability, liver failure, sepsis, and death in untreated cases.
Urea Cycle Disorders (e.g., Ornithine Transcarbamylase Deficiency)
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Inborn Errors of Metabolism
Symptoms:
hyperammonemia; lethargy; vomiting; poor feeding; irritability; coma; developmental delay
Root Cause:
Defects in enzymes of the urea cycle result in impaired ammonia detoxification and hyperammonemia.
How it's Diagnosed: videos
Plasma ammonia levels, plasma amino acid analysis (elevated glutamine, low citrulline), urinary orotic acid, and genetic testing for specific enzyme mutations.
Treatment:
Protein-restricted diet, ammonia-scavenging drugs, liver transplantation in severe cases.
Medications:
Sodium phenylbutyrate or glycerol phenylbutyrate (ammonia scavengers), arginine or citrulline supplements depending on the enzyme deficiency.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 35,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, X-linked or autosomal recessive inheritance patterns.
Prognosis:
The expected outcome or course of the condition over time.
Good with early intervention and metabolic control; severe cases may require liver transplantation.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Intellectual disability, seizures, coma, and death due to hyperammonemia.
Glycogen Storage Diseases (e.g., GSD Type I – Von Gierke Disease)
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Inborn Errors of Metabolism
Symptoms:
hypoglycemia; hepatomegaly; lactic acidosis; hyperuricemia; growth retardation; delayed puberty
Root Cause:
Deficiency of glucose-6-phosphatase (Type Ia) or glucose-6-phosphate translocase (Type Ib), leading to impaired glycogenolysis and gluconeogenesis.
How it's Diagnosed: videos
Hypoglycemia and lactic acidosis on biochemical testing, liver biopsy for enzyme activity, or genetic testing for G6PC or SLC37A4 mutations.
Treatment:
Frequent feedings with complex carbohydrates, cornstarch supplementation, and avoiding prolonged fasting.
Medications:
Allopurinol for hyperuricemia and granulocyte colony-stimulating factor (G-CSF) for neutropenia in Type Ib.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 100,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, autosomal recessive inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Improved with strict dietary management, though complications like hepatic adenomas and renal dysfunction may develop.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Liver tumors, kidney disease, gout, and growth retardation.
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.
Zellweger Syndrome
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Peroxisomal Disorders
Symptoms:
hypotonia; poor feeding; developmental delay; seizures; distinctive facial features; hearing loss; vision impairment; hepatomegaly; jaundice
Root Cause:
Defects in peroxisome biogenesis caused by mutations in PEX genes, leading to the accumulation of long-chain fatty acids and other toxic substances.
How it's Diagnosed: videos
Blood and urine tests for elevated very long-chain fatty acids, molecular genetic testing for PEX gene mutations, imaging studies for brain abnormalities.
Treatment:
Supportive care focusing on symptom management, including physical therapy, nutritional support, and seizure management.
Medications:
There are no specific medications to cure the condition; however, anticonvulsants such as phenobarbital or levetiracetam may be used for seizure control.
Prevalence:
How common the health condition is within a specific population.
Estimated to occur in 1 in 50,000 to 100,000 live births globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Zellweger spectrum disorders, autosomal recessive inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Poor; most infants with severe forms do not survive beyond the first year of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Liver dysfunction, severe neurological impairment, vision and hearing loss, failure to thrive, and early mortality.
Refsum Disease
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Peroxisomal Disorders
Symptoms:
retinitis pigmentosa; loss of night vision; peripheral neuropathy; ataxia; scaly skin (ichthyosis); hearing loss; anosmia; cardiac arrhythmias
Root Cause:
Impaired metabolism of phytanic acid due to a mutation in the PHYH gene or PEX7 gene, leading to phytanic acid accumulation.
How it's Diagnosed: videos
Elevated phytanic acid levels in blood plasma, genetic testing for PHYH or PEX7 mutations.
Treatment:
Dietary restriction to avoid phytanic acid (eliminating certain animal fats, dairy products, and fish) and plasmapheresis to reduce phytanic acid levels in severe cases.
Medications:
No direct medications; management includes dietary modifications and vitamin supplementation as needed.
Prevalence:
How common the health condition is within a specific population.
Rare, with an estimated incidence of 1 in 1,000,000 globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal recessive inheritance; family history of the condition.
Prognosis:
The expected outcome or course of the condition over time.
Variable; with early dietary management, many individuals can maintain a good quality of life, although vision and neurological impairments may progress.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Vision loss, neuropathy, cardiac arrhythmias, and progressive disability if untreated.
Adrenoleukodystrophy (ALD)
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Peroxisomal Disorders
Symptoms:
progressive weakness; behavioral changes; spasticity; vision and hearing loss; adrenal insufficiency (addison's disease); seizures
Root Cause:
Mutation in the ABCD1 gene, leading to the accumulation of very long-chain fatty acids (VLCFAs) in the brain, spinal cord, and adrenal glands.
How it's Diagnosed: videos
Elevated VLCFAs in blood plasma, genetic testing for ABCD1 mutations, MRI to detect white matter abnormalities in the brain.
Treatment:
Allogeneic hematopoietic stem cell transplantation (HSCT) in early stages for cerebral ALD; adrenal hormone replacement therapy for adrenal insufficiency.
Medications:
Hydrocortisone or fludrocortisone for adrenal insufficiency; experimental therapies such as gene therapy may also be considered.
Prevalence:
How common the health condition is within a specific population.
Estimated to affect 1 in 20,000 to 50,000 people, primarily males (X-linked disorder).
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of ALD, being male (X-linked inheritance).
Prognosis:
The expected outcome or course of the condition over time.
Without treatment, cerebral ALD leads to progressive neurological decline and early death. Early intervention can improve outcomes, particularly in milder forms.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe neurological disability, adrenal crisis, blindness, and death in severe cases.