STEP 1 REVIEW
BIOCHEMISTRY
High-Yield Clinical Presentations
- Recurrent viral, bacterial,
-
fungal infections
Low B & T cells counts
SCIDS
- Low Immunoglobulins
-
-
Intellectual disability
Self mutilation
Lesch-Nyhan syndrome
- Lack of red reflex
- Bone pain
- X-Ray shows sunburst RB gene mutation
pattern, codman triangle
- Soft tissues tumors
- Osteosarcoma
- Adrenocortical Li-Fraumeni syndrome
carcinomas
- Leukemias
- VLCFA buildup Peroxisome - Zellweger
- Hypotonia and seizures
Adrenoleukodystrophy
- Corneal clouding
- Gingival hyperplasia I-cell disease
- Coarse facial features
- Recurrent infections
- Infertility Primary Ciliary
Dyskinesia (Kartagener)
- Apex of the
heart on right
Scurvy (Vitamin C
- Bleeding gums
- Perifollicular hemorrhages
- Poor healing Deficiency)
- Recurrent fractures
- Blue sclera Osteogenesis Imperfecta
- Teeth and hearing issues
- FGFR3 mutation
- Short limbs
Achondroplasia
- Normal sized head
Menkes disease
- Brittle kinky hair
- Low copper
-
-
Stretchy skin
Easy bruising
Ehlers Danlos
- Hyperextensible joints Syndrome
- Tall, long arms and legs
- Upward lens dislocation Marfan syndrome
- Midsystolic click
- Tearing chest pain
- Cystic medial necrosis of Aortic dissection
aorta
- Downward lens
Homocystinuria
dislocation
- Recurrent DVT
- Intellectual disability
- Recurrent infections
- Poor growth
- Fatty stools Cystic Fibrosis
- Nasal polyps
- Pseudomonas infections
- Delayed passage of
meconium Meconium Ileus
- Bilious vomiting
Pancreatitis
- Epigastric pain radiating
to the back
- Obese child
-
-
Loves to eat
Temper tantrums
Prader Willi Syndrome
- Almond shaped eyes
- Little happy girl
- Inappropriate laughter Angelman Syndrome
- Bony outgrowths on the
face
McCune Albright
- Hyperpigmented spots on
skin Syndrome
- Precocious puberty
- Boy with muscle
Duchenne/Becker
weakness
- Uses arms to help stand
-
up
Bilateral calf enlargement
Muscular Dystrophy
- High CK
- S3, Decreased EF
- Eccentric hypertrophy Dilated Cardiomyopathy
- Globally enlarged heart
- Delayed release of
handshake Myotonic Dystrophy
- Balding, testicular atrophy
- Little girl
- Stereotypic hand
movements Rett Syndrome
- Regression of function
- Boy
Fragile X Syndrome
- Big face
- Big jaw
- Big ears
- Big testes
- Slanted palpebral fissures
- Single palmar crease Down syndrome
(Trisomy 21)
- Epicanthal folds
- Duodenal atresia
- Cutis aplasia (absence of
epidermis over skull)
Patau syndrome
- Holoprosencephaly (Trisomy 13)
- Omphalocele
- Closed fist with
Edwards Syndrome
overlapping fingers
- Micrognathia (Trisomy 18)
STEP 1 REVIEW
BIOCHEMISTRY
High-Yield Clinical Presentations
Part 2
Vitamin A Deficiency
- Night blindness
- Scaly, dry skin
- Confusion
- Opthalmoplegia Wernicke - Thiamine
(Vitamin B1) Deficiency
- Nystagmus
- Gait ataxia
- Irreversible memory loss
- Making up information to
fill in memory gaps Korsakoff
(confabulation)
- AST/ALT ratio >2:1
- Fissures at corner of
mouth
Riboflavin (Vitamin B2)
- Red tongue Deficiency
Niacin (Vitamin B3)
- Diarrhea
- Dementia
- Dermatitis Deficiency
- Peripheral neuropathy
after being treated for a Pyridoxine (Vitamin B6)
disease that causes fever,
Deficiency
night sweats, hemoptysis
- Alcoholic or pregnant pt
Folate (Vitamin B9)
- Low Hb and Hct
- High MCV
- High homocysteine Deficiency
- Normal methylmalonic
acid
- Vegan, pernicious anemia,
terminal ileum affected,
metformin use
Cobalamin (Vitamin
- Low Hb and Hct, high MCV
- High homocysteine B12) Deficiency
- High methylmalonic acid
- Neuro symptoms (loss of
touch, proprioception)
- Kid with bowed legs, rib
prominence
- Imaging shows physeal
widening and metaphyseal
cupping Rickets (Vitamin D)
- Low calcium and phosphate,
high PTH Deficiency
- Must be supplemented in
exclusively breastfed babies
- Baby born at home or CF
pt + bleeding issue Vitamin K Deficiency
- High PT/PTT
Zinc Deficiency
- Lack of taste/smell
- Perioral/perianal rash
- Vomiting after
breastfeeding
- Cataracts Galactosemia
- Reducing substances in
urine
- Watery diarrhea
- Positive hydrogen breath
test Lactose Intolerance
- Decreased stool pH
- Increased stool osmolality
- Musty body odor
- Intellectual disability PKU
- Hepatosplenomegaly
- Cherry red macula Niemann-pick disease
Tay-sachs disease
- Cherry red macula
- No Hepatosplenomegaly
- Bone pain
- Hepatosplenomegaly Gaucher disease
- Pancytopenia
- Fatty stools
- Night blindness Abetalipoproteinemia
- Lipid laden enterocytes
- High TAG
- Creamy layer in blood Hyperchylomicronemia
- Accelerated
-
atherosclerosis
FH of early MI Familial
- Mutation of LDL receptors
in liver
Hypercholesterolemia
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