Genetic/Metabolic Flashcards
Elevated free T4, suppressed TSH
Primary hyperthyroidism
Thyrotoxicosis with decreased radioactive iodine uptake
Painless (silent) thyroiditis, subacute (de quervain) thyroiditis
Thyrotoxicosis with normal or increased radioactive iodine uptake
Graves’ disease
In metabolic screening organic acids and ominous acids are detected by
Their unique mass
Classic PKU presentation
Intellectual disability, microcephaly, seizures, pigment abnormalities
Treatment of PKU
Phenylalanine restriction, low protein diet, cofactor supplementation
PKU, MSUD, homocystinuria and tyrosinemia are examples of
Defects in amino acid metabolism
Duchennes muscular dystrophy presents
With gross motor delay in childhood, cognitive dysfunction and behavioural issues, proximal muscle weakness
Marfans syndrome presents as
Joint hyper mobility and increased risk of aortic root disease
Rett syndrome is characterized by
Progressive brain deterioration that leads to deceleration of head growth and developmental regression
Mutation in Rett syndrome
MECP2 mutation (generally fatal in boys)
Dietary treatment of PKU effectiveness
Reverses all Sx except cognitive impairment that has already occurred
Sphigomyelinase deficiency is called
Neimann-Pick disease
B-hexosaminidase A deficiency is called
Tay-Sachs disease
Onset of Niemann-Pick and TAY-sachs occurs around
2-6 months of age
Loss of milestones, hypotonia, feeding issues, cherry red macula are signs of…
Niemann pick disease AND taysachs
You can distinguish Niemann pick disease and taysachs because
Niemann pick disease has hepatosplenomegaly and areflexia, while taysachs kids are hyperreflexic without liver enlargement
Galactocerebrosidase deficiency results in
Krabbe disease, a lysosomal storage disorder
Glucocerebrosidase deficiency leads to
Gaucher disease
Lysosomal hydrolase deficiency leads to
Hurler syndrome
Short webbed neck and broad chest with widely spaced nipples
Turners syndrome
What cardiac findings are associated with turners syndrome
Coarctation of aorta, bicuspid aortic valve
What renal manifestation is associated with turners
Horseshoe kidney
What reproductive abnormalities are associated with turners
Streak ovaries, amenorrhea, and infertility
MVP is common in what two genetic disorders
CT disorders marfans and ehlers danlos
Which genetic disorder is associated with tetralogy of fallout
DiGeorge syndrome, Down’s syndrome
Major depressive disorder, salt craving, and reduced body hair are suggestive of
Primary adrenal insufficiency aka Addyson’s disease
Diagnosis of primary adrenal insufficiency is made by stimulation testing with
Cosyntropin - ACTH
Low cortisol following cosyntropin administration is diagnostic of
PAI
Episodic jaundice that can follow viral infection, fever, stress, dehydration, menstruation, surgery
Gilbert’s syndome
Thyrotoxicosis with normal or increased radioactive iodine uptake
Graves’ disease
Thyrotoxicosis with normal or increased radioactive iodine uptake
Graves’ disease
Non classic congenital adrenal hyperplasia is most commonly caused by deficiency of
21 hydroxylase deficiency (leading to increased androgen synthesis)
Diagnosis of non classic congenital adrenal hyperplasia is with
Elevated 17-hydroxyprogesterone level and ACTH stimulation test
