Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2048

Primary information
ID	2048
Disorder	Lysosomal Acid Lipase Deficiency
Inheritance	Autosomal recessive
Organ Affected	Liver, Spleen, Failure to thrive
Onset	Early
Genotype-Phenotype Correlation	the childhood/adult-onset form of LALD and has never been observed in infantile-onset disease, which is likely explained by higher residual enzyme activity of this allele: ?1 copy of the c.894G>A mutations(Splice- junction mutation common)
Refrences	28804516