Background: KD or Globoid cell leukodystrophy, a rare autosomal recessive mutation on chromosome 14q31 leading to galactocerebrosidase (G alc) defiency. G alc breaks down lipids into galactosyl-ceramide and psychosine found in the nervous system. The toxicity of psychosine in the nervous system leads to severe neuronal damage. Diagnosis is best confirmed by the fibroblast qualitative and quantitative analysis of the enzyme galactocerebrosidase. KD has no cure with poor prognosis.
Objective: To elucidate the rare lysosomal genetic disorders.
Methodology: Seventy-six publications were selected, and 45 fits into the inclusion criteria [Medline (OVidSp), Pubmed (US NLM), Google Scholar.
Discussion: Alysosomal neurogenerative disorder with different molecular mechanisms among the variants, ranging from abnormalities in production, endoplasmic reticulum transportation, and post translational modifications to co-factors/active sites binding. KD involves endoplasmic reticulum trapping, mutation of N279TGALC and Missense mutation of HEK293T, Y551S, I546T, G270D, and WT GALC. Early Infantile KD: Children< 6 months, characterized by neurological manifestations. Late Infantile KD: 6 months to three years with symptoms similar to Early Infantile KD. Adolescent KD: Initially shows regression of motor skills at >3 years of age, and progresses slowly than the infantile-onset. The adult onset of KD: Visual problems followed by muscle stiffness, ataxia, and pain misdiagnosed as Multiple Sclerosis. Investigated by enzyme activity, Psychosine Concentration, Molecular testing, Nerve conduction, brain Imaging and lumbar puncture. Stem-Cell Transplantation, Gene Therapy, and symptomatic relief for irritability, seizure and pain, muscles relaxant, and feeding assistance may be helpful.
Conclusion: KD is an autosomal recessive neurodegenerative disorder with known variants. KD is primarily caused by deleting the GALC gene found on chromosome 14 (14q31). The enzyme deficiency results in psychosine upsurge, which is cytotoxic to neural cells. KD has no cure, but symptomatically managed.
