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Krabbe disease

Summary of Krabbe disease
Krabbe disease is a rare, often fatal, degenerative disorder that affects the myelin sheath of the nervous system. It is characterized by deficiency of the enzyme galactocerebrosidase and subsequent accumulation of galactocerebroside and psychosine. It is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. This condition is inherited in an autosomal recessive pattern.

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Biochemistry and nutrition

Biochemistry

Biochemistry and metabolism
Metabolic disorders

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Krabbe disease

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High Yield Notes
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Krabbe disease

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USMLE® Step 1 style questions USMLE

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USMLE® Step 2 style questions USMLE

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A ten-month-old girl is referred to a pediatric neurologist for several seizures over the last few months and new difficulty with walking. She was born full-term without complications to a G2P2 mother after an uneventful pregnancy. On physical examination the child is unable to stand upright without support and does not track objects with her eyes. MRI shows optic nerve atrophy. A nerve biopsy shows demyelinated nerves with nests of multinucleated globoid cells. Which of the following is the correct diagnosis?