Galactosemia
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Galactosemia
MLT 215 Unit 3
MLT 215 Unit 3
Alkaptonuria
Disorders of carbohydrate metabolism: Pathology review
Disorders of amino acid metabolism: Pathology review
Cystinuria (NORD)
Homocystinuria
Hartnup disease
Maple syrup urine disease
Ornithine transcarbamylase deficiency
Phenylketonuria (NORD)
Essential fructosuria
Galactosemia
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Purine and pyrimidine synthesis and metabolism disorders: Pathology review
Lesch-Nyhan syndrome
Lower urinary tract infection
Kidney stones
Alport syndrome
Goodpasture syndrome
IgA nephropathy (NORD)
Poststreptococcal glomerulonephritis
Diabetic nephropathy
Membranoproliferative glomerulonephritis
Minimal change disease
Acute pyelonephritis
Chronic pyelonephritis
Nephritic syndromes: Pathology review
Nephrotic syndromes: Pathology review
Urinary tract infections: Pathology review
Cystinosis
Key Takeaways
Galactosemia is an autosomal recessive disorder of galactose metabolism. People with galactosemia lack one of the enzymes that break down galactose, which results in the accumulation of certain toxins in the liver, brain, and eyes. Symptoms of galactosemia include diarrhea, vomiting, jaundice, and damage to the liver and brain..