Clinical Correlation 3 and 4 Flashcards
most common enzyme deficiency
X-linked recessive
G6PD Deficiency
this deficiency is asymptomatic until a stressor (like birth)
G6PD Deficiency
this enzyme is the rate limiting enzyme in PPP (reduces NAD to NADPH)
key part in oxidative stress pathway
G6PD
autosomal recessive
presents in infancy w/ introduction of new sugars
hereditary fructose deficiency
lack Aldolase B
cannot breakdown fructose-1 phosphate leading to toxic buildup
toxicity to liver and kidneys
hereditary fructose deficiency
lacks lactase leading to GI issues
lactose deficiency
cherry red spot in macula
autosomal recessive
hexoaminidase deficiency
death
Tay-Sachs
cherry red spot
hepatosplenomegaly
jaundice
autosomal recessive
sphingomylinase deficiency
Niemann-Pick Disease
key clinical features:
family history of multiple and/or rare cancers
orphan disease
present at any age
Li-Fraumeni Syndrome
autosomal dominant
mutation of TP53 (tumor suppressor protein)
Li-Fraumeni syndrome
clinical sx’s and signs of underlying malignancy (weight loss, headaches, lumps, bruising)
Li-Fraumeni syndrome
diagnose this if they have cancer before 45 yrs, FH of cancer, and unusual cancers
Li-Fraumeni syndrome
key clinical features includes:
weight loss
iron deficiency in men and post-menopausal women
changes in stool, blood in stool
colon cancer
risk factors:
red meat and fat
FH
IBS
colon cancer
adenoma-carcinoma pathway (two-hit hypothesis)
APC inactivation, KRAS activation, and TP53 inactivation
(deals with disregulation of cell cycle)
colon cancer
