2025 – PAGE 358 – INBORN ERRORS OF METABOLISM & MISCELLANEOUS METABOLIC DISORDERS
SPHINGOLIPIDOSES
TAY-SACHS DISEASE
Tay-Sach disease (AKA Tay-Sach’s disease) is a deficiency of Hexosaminidase A enzyme (a lysosomal enzyme) resulting in progressive neurologic deficits. Patients can develop normally until about 9 months but then begin to show signs of lethargy and hypotonia. They are also found to have macrocephaly, an exaggerated startle reflex, and a cherry red spot on the retina. Children usually die by the age of four. You are REQUIRED TO SCREEN all kids born to Ashkenazi Jews for this, and may do so by amniocentesis or chorionic villus sampling. It’s autosomal recessive, which means both parents are carriers.
PEARL: There is no organomegaly.
MNEMONIC: Do you know anyone named Tay? Tate? Taz? Imagine TATE becomes famous and develops a HUGE HEAD (macrocephaly) from his success. He’s now a smooth and LOOSE talking player. Everything is fine until a jealous PREGNANT ASHKENAZI JEWISH RABBI shoves a NEEDLE in his belly (amniocentesis) and a CHERRY in his EYE. He is HUGELY STARTLED (startle reflex) by how his fame has done him in.
GAUCHER DISEASE (AKA GAUCHER’S DISEASE)
Patients with Gaucher disease (AKA Gaucher’s disease) have hepatomegaly, thrombocytopenia, easy bruisability, osteosclerosis and lytic lesions with bone pain, and often short stature.
MNEMONIC: Rename it OUCHers disease since patient complain of bone pain.
MNEMONIC: Rename it GROUCH-ers disease. Imagine some GROUCHY old lady complaining of bone pain and easy bruising. She’s so dramatic about it all that she starts wrapping her arms and legs in TOILET PAPER (TP = Thrombocytopenia) to show you how much pain she has!