Krabbe disease

Krabbe disease

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V

Familial hypercholesterolemia
Multiple endocrine neoplasia
Neurofibromatosis
Tuberous sclerosis
von Hippel-Lindau disease
Albinism
Cystic fibrosis
Gaucher disease (NORD)
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
Hemochromatosis
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Krabbe disease
Leukodystrophy
Niemann-Pick disease types A and B (NORD)
Fabry disease (NORD)
Tay-Sachs disease (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Phenylketonuria (NORD)
Cystinuria (NORD)
Aromatic L-amino acid decarboxylase deficiency (NORD)
Sickle cell disease (NORD)
Spinocerebellar ataxia (NORD)
IgA nephropathy (NORD)
Focal segmental glomerulosclerosis (NORD)
Muscular dystrophies and mitochondrial myopathies: Pathology review
Wiskott-Aldrich syndrome
Muscular dystrophy
Hemophilia
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Alport syndrome
Alpha-thalassemia
Beta-thalassemia
Congenital adrenal hyperplasia
Primary adrenal insufficiency
Waterhouse-Friderichsen syndrome
Hyperaldosteronism
Cushing syndrome
Conn syndrome
Thyroglossal duct cyst
Hyperthyroidism
Graves disease
Thyroid eye disease (NORD)
Toxic multinodular goiter
Thyroid storm
Hypothyroidism
Hashimoto thyroiditis
Riedel thyroiditis
Thyroid cancer
Hypocalcemia
Hypercalcemia
Hyperparathyroidism
Hypoparathyroidism
Diabetes mellitus
Diabetic retinopathy
Diabetic nephropathy
Hyperpituitarism
Pituitary adenoma
Hyperprolactinemia
Prolactinoma
Gigantism
Acromegaly
Hypopituitarism
Pituitary apoplexy
Sheehan syndrome
Hypoprolactinemia
Constitutional growth delay
Diabetes insipidus
Syndrome of inappropriate antidiuretic hormone secretion (SIADH)
Precocious puberty
Delayed puberty
Premature ovarian failure
Polycystic ovary syndrome
Androgen insensitivity syndrome
Kallmann syndrome
5-alpha-reductase deficiency
Multiple endocrine neoplasia
Pancreatic neuroendocrine neoplasms
Zollinger-Ellison syndrome
Carcinoid syndrome
Pheochromocytoma
Neuroblastoma
Myelodysplastic syndromes
Nephrotic syndromes: Pathology review
Reye syndrome
Tourette syndrome
Fragile X syndrome
Valvular heart disease: Pathology review
Sleep apnea
HIV (AIDS)
Heart blocks: Pathology review
Malabsorption syndromes: Pathology review
Tuberculosis: Pathology review
Hypothyroidism: Pathology review
Inflammatory bowel disease: Pathology review
Osteoporosis medications
Osteoarthritis
Acute pancreatitis
Major depressive disorder
Bipolar and related disorders
Generalized anxiety disorder
Panic disorder
Obsessive-compulsive disorder
Body dysmorphic disorder
Post-traumatic stress disorder
Physical and sexual abuse
Schizoaffective disorder
Schizophreniform disorder
Delusional disorder
Schizophrenia
Delirium
Amnesia
Dissociative disorders
Anorexia nervosa
Bulimia nervosa
Factitious disorder
Somatic symptom disorder
Attention deficit hyperactivity disorder
Tourette syndrome
Autism spectrum disorder
Rett syndrome
Neuroleptic malignant syndrome
Skin cancer: Clinical
Spina bifida
Amenorrhea: Clinical
Cervical cancer: Clinical
Seizures: Clinical
Leukemia: Clinical
Headaches: Clinical
Portal hypertension
Cirrhosis
Cirrhosis: Pathology review
Kawasaki disease
Lymphedema
Persistent truncus arteriosus
Transposition of the great vessels
Total anomalous pulmonary venous return
Hypoplastic left heart syndrome
Patent ductus arteriosus
Ventricular septal defect
Coarctation of the aorta
Atrial septal defect
Tricuspid valve disease
Pulmonary valve disease
Mitral valve disease
Aortic valve disease
Dilated cardiomyopathy
Restrictive cardiomyopathy
Hypertrophic cardiomyopathy
Cor pulmonale
Acyanotic congenital heart defects: Pathology review
Cyanotic congenital heart defects: Pathology review
Valvular heart disease: Pathology review
Prinzmetal angina
Aneurysms
Acute leukemia
Acute pyelonephritis
Acute kidney injury: Clinical
Poliovirus
Renal tubular acidosis

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.