Internal Medicine

0521779407-18 CUNY1086/Karliner 0 521 77940 7 June 13, 2007 8:1

1270 Recurrent Aphthous Stomatitis Red Cell Enzymes

■insomnia most common side-effect

■caution in diabetes, GI ulcers, fragile hypertension

follow-up

■recurrence time (frequency of attacks) varies

complications and prognosis

■no association with other conditions

■no cure; treat symptoms; not contagious

■avoid events, agents that are associated with outbreaks

RED CELL ENZYMES

XYLINA GREGG, MD and JOSEF PRCHAL, MD

history & physical

History

■Variety of phenotypes

➣Red cell phenotypes

Hemolysis – acute intermittent – G6PD, GC and GSH synthase

deficiencies

Chronic – pyruvate kinase (PK), glucose-1-phosphate iso-

merase, 5′nucleotidase, hexokinase and rarely G6PD, GC and

GSH synthase deficiencies

Polycythemia – biphosphoglyceratemutase deficiency –

decreased 2,3 BPG levels result in increased hemoglobin oxy-

gen affinity

Methemoglobinemia – cytochrome b5 deficiency

➣Other Phenotypes

Cataracts – galactokinase deficiency

Cataracts, deafness, developmental delay – galactose uridyl

transferase deficiency

Glycogen storage disorders – aldolase deficiency, PGK defi-

ciency

Metabolic acidosis and failure to thrive – cytochrome b5 defi-

ciency (type 2 methemoglobinemia)

Myoglobinuria – PGK deficiency

Immune deficiency from B lymphocyte dysfunction – adeno-

sine deaminase

■Inheritance Patterns

➣X-linked – PGK and G6PD

➣Autosomal recessive – all others; check for history of consanguin-

ity or inbreeding