Glycolipid Disorders Flashcards
Bony pain, big spleen, Hepatosplenomegaly, anemia, thrombocytopenia, looks like ‘lymphoma’ (big spleen/anemia) but isn’t
Gaucher type 1
Deficiency in Gaucher type 1
Beta glucosidase (a.ka. Glucocerebrosidase)
molecules that contain both carbohydrate and lipid components.
Glycolipids
tissue paper macrophages
Erlenmeyer flask deformity
Gaucher
Beta-hexosaminadase deficiency
Taysachs
Cherry red spot
increased startle reflex
Normal liver/spleen
Taysachs
Alpha galactosidase deficiency
Fabry
Angiokeratomas (bathing trunk
distribution), Renal Failure
Acroparesthesias (pain in palms
and soles), Normal IQ
Fabry
Deficiency in Niemann Pick
Sphingomyelinase
Alpha-glucosidase deficiency
Pompe Disease
Infant with profound weakness and hypertrophic CM
or Adult with proximal muscle weakness and sleep apnea
Pompe Disease
Iduronate sulfatase deficiency
Hunter Syndrome, X-linked
Coarse-appearing child, who is short, has hoarse voice, frequent URIs and some learning problems; NO corneal clouding
Hunter, X-linked
alpha iduronidase deficiency
Hurler Syndrome
Similar to Hunter (can occur in girls); Coarse facies, big
liver/spleen, major skeletal problems, corneal clouding
Hurler Syndrome
