Krabbe disease

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Krabbe disease

Biochemistry

Biochemistry

Citric acid cycle

Electron transport chain and oxidative phosphorylation

Gluconeogenesis

Glycogen metabolism

Pentose phosphate pathway

Physiological changes during exercise

Amino acid metabolism

Nitrogen and urea cycle

Fatty acid synthesis

Fatty acid oxidation

Ketone body metabolism

Cholesterol metabolism

Essential fructosuria

Hereditary fructose intolerance

Pyruvate dehydrogenase deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

Lactose intolerance

Glycogen storage disease type I

Glycogen storage disease type II (NORD)

Glycogen storage disease type III

Glycogen storage disease type IV

Glycogen storage disease type V

Metachromatic leukodystrophy (NORD)

Gaucher disease (NORD)

Niemann-Pick disease types A and B (NORD)

Niemann-Pick disease type C

Fabry disease (NORD)

Tay-Sachs disease (NORD)

Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)

Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)

Hartnup disease

Ornithine transcarbamylase deficiency

Phenylketonuria (NORD)

Cystinuria (NORD)

Maple syrup urine disease

Abetalipoproteinemia

Familial hypercholesterolemia

Hypertriglyceridemia

Disorders of carbohydrate metabolism: Pathology review

Disorders of fatty acid metabolism: Pathology review

Dyslipidemias: Pathology review

Glycogen storage disorders: Pathology review

Lysosomal storage disorders: Pathology review

Disorders of amino acid metabolism: Pathology review

Carbohydrates and sugars

Fats and lipids

Vitamin K deficiency

Vitamin D deficiency

Excess Vitamin A

Excess Vitamin D

Folate (Vitamin B9) deficiency

Niacin (Vitamin B3) deficiency

Vitamin B12 deficiency

Vitamin C deficiency

Wernicke-Korsakoff syndrome

Iodine deficiency

Zinc deficiency

Fat-soluble vitamin deficiency and toxicity: Pathology review

Zinc deficiency and protein-energy malnutrition: Pathology review

Water-soluble vitamin deficiency and toxicity: B1-B7: Pathology review

Bile secretion and enterohepatic circulation

Key Takeaways

Krabbe disease is a rare autosomal recessive disease, in which there is deficiency in glucocerebrosidase enzyme and the accumulation of toxic myelin breakdown product inside cells. This results in progressive neurodegeneration in which early symptoms include vision problems, and balance issues. As the disease progresses, there may be inability to move, speak, or breathe. Most people with Krabbe disease die within two years of diagnosis.