Study Set Content:
Symptoms intellectual disability, paralysis, blindness, deafness, pseudobulbar palsy
KRABBE’S LEUKODYSTROPHY
KRABBE’S LEUKODYSTROPHY inheritance
Autosomal recessive
KRABBE’S LEUKODYSTROPHY affecting how many
1 in 100,000 (US); males are affected as often as females
KRABBE’S LEUKODYSTROPHY Diagnosis
enzyme assay
KRABBE’S LEUKODYSTROPHY Treatment
no specific treatment; prevent symptoms and supportive care
FABRY’S DISEASE• Accumulating lipid
Ceramide trihexoside
FABRY’S DISEASE Missing/defective enzyme
α-Galactosidase
Mutations in the GLA gene
FABRY’S DISEASE
FABRY’S DISEASE
affects 1 in 40,000 males
Type 1
FABRY’S DISEASE affects 1 in 1,500 to 4,000 male
Type 2
Type 2 Transmit the mutated gene to all their (blank), but never to their (blank)
daughters, son
pain in the extremities, anhidrosis or hipohidrosis, angiokeratoma, GI abnormalities, corneal dystrophy
FABRY'S DISEASE
FABRY’S DISEASE treatment
ERT and recombinant enzyme
TAY-SACHS DISEASE Accumulating lipid:
Ceramide oligosaccharide
TAY-SACHS DISEASE Missing/defective enzyme
Hexosaminidase A
Symptoms: exaggerated startle response to sudden noises, listlessness, psychomotor regression, hypotonia, cherry-red spots within the middle layer of the eyes, loss of vision, deafness, muscle stiffness, seizures, dementia
Tay - sachs disease
TAY-SACHS DISEASE inheritance
Autosomal recessive inheritance
TAY-SACHS DISEASE mostly affects
Ashkenazi Jewish descent
NIEMANN-PICK DISEASE (NPD)• Accumulating lipid:
Sphingomyelin (liver, spleen and brain)
NIEMANN-PICK DISEASE (NPD) Defective enzyme
Sphingomyelinase
