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〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥

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1. クラッベ病 krabbe disease
2. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
3. アスパルトアシラーゼ欠乏症（カナバン病） aspartoacylase deficiency canavan disease
4. 成人における早期発症の認知症 early onset dementia in adults

English Journal

Adult-onset Krabbe disease presenting as acute hemiparesis and progressive demyelination detected by diffusion-weighted imaging.

Mamada N1, Nakamagoe K2, Shioya A1, Furuta J3, Sakai N4, Ishii A5, Tamaoka A1.
Journal of the neurological sciences.J Neurol Sci.2016 Aug 15;367:326-8. doi: 10.1016/j.jns.2016.06.026. Epub 2016 Jun 11.
PMID 27423612

Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.

Spratley SJ1, Hill CH1,2, Viuff AH3, Edgar JR4, Skjødt K5, Deane JE1.
Traffic (Copenhagen, Denmark).Traffic.2016 Aug;17(8):908-22. doi: 10.1111/tra.12404. Epub 2016 May 30.
Krabbe disease is a severe, fatal neurodegenerative disorder caused by defects in the lysosomal enzyme galactocerebrosidase (GALC). The correct targeting of GALC to the lysosome is essential for the degradation of glycosphingolipids including the primary lipid component of myelin. Over 100 different
PMID 27126738

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