Condition Lookup
Sub-Category:
Inborn Errors of Metabolism
Number of Conditions: 4
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.