Krabbe disease




Krabbe disease


Population genetics

Mendelian genetics and punnett squares

Hardy-Weinberg equilibrium

Inheritance patterns

Independent assortment of genes and linkage

Evolution and natural selection

Genetic disorders

Down syndrome (Trisomy 21)

Edwards syndrome (Trisomy 18)

Patau syndrome (Trisomy 13)

Fragile X syndrome

Huntington disease

Myotonic dystrophy

Friedreich ataxia

Turner syndrome

Klinefelter syndrome

Prader-Willi syndrome

Angelman syndrome

Beckwith-Wiedemann syndrome

Cri du chat syndrome

Williams syndrome

Alagille syndrome (NORD)


Polycystic kidney disease

Familial adenomatous polyposis

Familial hypercholesterolemia

Hereditary spherocytosis

Huntington disease

Li-Fraumeni syndrome

Marfan syndrome

Multiple endocrine neoplasia

Myotonic dystrophy


Treacher Collins syndrome

Tuberous sclerosis

von Hippel-Lindau disease


Polycystic kidney disease

Cystic fibrosis

Friedreich ataxia

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


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

Krabbe disease


Niemann-Pick disease types A and B (NORD)

Niemann-Pick disease type C

Primary ciliary dyskinesia

Phenylketonuria (NORD)

Sickle cell disease (NORD)

Tay-Sachs disease (NORD)



Wilson disease

Fragile X syndrome

Alport syndrome

X-linked agammaglobulinemia

Fabry disease (NORD)

Glucose-6-phosphate dehydrogenase (G6PD) deficiency


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

Lesch-Nyhan syndrome

Muscular dystrophy

Ornithine transcarbamylase deficiency

Wiskott-Aldrich syndrome

Mitochondrial myopathy

Autosomal trisomies: Pathology review

Muscular dystrophies and mitochondrial myopathies: Pathology review

Miscellaneous genetic disorders: Pathology review


Krabbe disease


0 / 11 complete

USMLE® Step 1 questions

0 / 2 complete

High Yield Notes

6 pages


Krabbe disease

of complete


USMLE® Step 1 style questions USMLE

of complete

A 7-month-old boy is brought to the clinic for evaluation of developmental delay. The child is breastfed, but the mother states that recently, he has been irritable and frequently has been having feeding difficulties. His parents have noticed that he is unable to roll over, while his older brother was able to sit up unassisted at the same age. He is of Ashkenazi Jewish descent. Vitals are within normal limits. Facial examination reveals no structural abnormalities. Neurological examination reveals symmetric peripheral neuropathy with diminished sensation to pain. Motor examination reveals spasticity, and muscle atrophy is noted in all extremities. Abdominal examination is unremarkable. Fundoscopy reveals optic atrophy. The family is instructed to return for further genetic testing; however, they are lost to follow-up. One year later, the child passes away due to aspiration pneumonia. Autopsy specimens reveal neural tissue with multinucleated macrophages that stain positive with Periodic acid–Schiff stain with widespread demyelinating changes. Accumulation of which of the following metabolites was responsible for this patient’s symptoms?

External References

First Aid








Globoid cells

Krabbe disease p. 86

Krabbe disease p. 86

Peripheral neuropathy

Krabbe disease p. 86


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.


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