Krabbe Disease: An Overview of a Rare Genetic Neurodegenerative Disorder
Published: 2022-10-07
Page: 132-139
Issue: 2022 - Volume 5 [Issue 1]
Adedeji Okikiade *
College of Medicine, All Saints University, Saint Vincent and the Grenadines. b Lagos University Teaching Hospital, Idi-Araba, Lagos, Nigeria.
Miriam Tikanide
College of Medicine, All Saints University, Saint Vincent and the Grenadines. b Lagos University Teaching Hospital, Idi-Araba, Lagos, Nigeria.
Esther Akinyode
College of Medicine, All Saints University, Saint Vincent and the Grenadines. b Lagos University Teaching Hospital, Idi-Araba, Lagos, Nigeria.
Annah Akoth
College of Medicine, All Saints University, Saint Vincent and the Grenadines. b Lagos University Teaching Hospital, Idi-Araba, Lagos, Nigeria.
Olayinka Oloye-Afolayan
College of Medicine, All Saints University, Saint Vincent and the Grenadines. b Lagos University Teaching Hospital, Idi-Araba, Lagos, Nigeria.
Damisola Ogunesan
College of Medicine, All Saints University, Saint Vincent and the Grenadines. b Lagos University Teaching Hospital, Idi-Araba, Lagos, Nigeria.
*Author to whom correspondence should be addressed.
Abstract
Krabbe disease (or Globoid cell leukodystrophy) is a rare mutation of a gene found on chromosome 14q31 responsible for the production of the enzyme called galactocerebrosidase (G ALC), which breaks down two galactolipids; galactosyl-ceramide and galactosylsphingosine (psychosine) found in the central nervous system (CNS). This enzyme's absence causes some substrate buildup, particularly psychosine.
Krabbe disease (KD) results from the toxicity of psychosine in the central nervous system, leading to clinical manifestations that characterize the disease. Demyelination occurs due to these cytotoxic activities of psychosine, leading to severe neuronal damage and the formation of globoid cells. Most cases present with fatal clinical manifestations and a bad prognosis.
The incidence in the United States is approximately 1:100,000 but could be more in certain parts of the country. The incidence is higher in males. The mode of inheritance is primarily autosomal. Diagnosis is best confirmed by the fibroblast's qualitative and quantitative analysis of the enzyme galactocerebrosidase (galactosylceramidase).
This disease has no cure. Numerous research works showed that cases presented earlier could be treated with HSCT to bring about more favorable outcomes. The use of low-dose morphine may help with irritability common in these patients. This review article aims to achieve a basic understanding of this rare neurological disorder among medical and health professionals/students.
Keywords: Krabbe disease, galactocerebrosidase (GALC), lipids, globoid cell leukodystrophy, autosomal recessive