Beta-glucosidase deficiency leads to:
Correct Answer: Gaucher's disease
Description: Ans. aRef.: Harper's Illustrated Biochemistry, 30th edn.Option aTrueYes, it is due to Beta-glucosidase deficiencyOption bFalseNo, it is due to Hexosaminidase A deficiencyOption cFalseNo, it is due to galactose-1-phosphate uridyltransferase or galactokinase deficiencyOption dFalseNo, DM (probably diabetes mellitus) is insulin deficiency or insulin resistanceOption eFalseNo, it is due to Sphingomyelinase deficiency Lysosomal storage diseaseDeficient enzymeGaucher's diseaseBeta-glucosidaseNiemann-PickSphingomyelinaseKrabbe'sBeta-galactosidaseTay SachsHexosaminidase AMetachromatic LeukodystrophyAryl sulfatase AGaucher'sType 1 is most common (other types are type 2, 3, 4).Type 1 is non-neuropathic Gaucher's, as it spares brain and spinal cord.Classical features are: hepatosplenomegaly, thrombocytopenia, bone abnormalities.Type 2 and type 3 are neuropathic forms.Niemann-Pick diseaseIs of four type-type A, B, C1, C2.Type AHepatosplenomegaly, failure to thrive, pulmonary infections.Cherry red spot in eye.Type BIn mid childhood.Thrombocytopenia, stunting.Type CDystonia, neurological deficits.Speech and swallowing problem.Tay-Sachs disease.Rare, autosomal recessive disease.Due to deficient activity of the enzyme hexosaminidase A. This enzyme hydrolyzes lipids in the neuronal cells. Thus in absence of this enzyme, there is lipid accumulation in the neurons leading to defective functions.Neurological deficit.Seizures, IQ defect, hearing loss, vision loss.Cherry red spot macula in the retina of eye.Krabbe's disease (galactosylceramide lipidosis).Autosomal recessive.By deficiency of enzyme galactosylceramidase.Mutation in GALC gene located on chromosome 14.Leads to clinical condition of leukodystrophy resulting from demylination.Classical features include: developmental delay, sensorineural hearing loss, seizures.
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Biochemistry
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