ChemPath from metabolic disorders Flashcards
Raised phenylalanine, blue eyes, fair skin (give Tx)
PKU → restrict phenylalanine
Sweaty feet
Maple syrup urine
Metabolic acidosis, raised anion gap, funny smelling urine (+ Tx)
Organic acidaemia → low protein diet
Raised ammonia, encephalopathy, respiratory alkalosis (+ Tx)
Urea cycle defect → low protein diet
Low ketones, raised acylcarnitine on tandem mass spectrometry (+ Tx)
MCADD → never allow to be hypoglycaemic → regular carbs
Bilateral cataracts, hypoglycaemia, renal/kidney dysfunction, raised galactose in urine (+ Tx)
Galactosaemia → low galactose diet
Hypoglycaemia, hepatomegaly, lactic acidosis (+ Tx)
Glycogen storage disease (Von Gierke’s) → high carb diet
Dysmorphic features, multi-system disease, raised transferrin
Glycosylation disorder
Severe hypotonia with retinopathy
Peroxisomal disorder
urine mucopolysaccharides + organomegaly
Tay Sachs / lysosomal storage disease
Lactic acidosis, brain + muscle + heart involvement
MELAS (mitochondrial encephalopathy lactic acidosis syndrome)
Abdominal pain, peripheral neuropathy, psychosis, red urine, constipation + blistering on the back of hands in the sun
Hereditary porphyria (COPOX) OR variegate porphyria (PPOX)
Abdominal pain, peripheral neuropathy, psychosis, red urine, constipation, weakness
Acute intermittent porphyria (HMB synthase) OR ALA-S deficiency
Stool sample → faecal coproporphyrinogen III
Hereditary or variegate porphyria
Urine sample → porphobilinogen and aminolevulinic acid
Acute intermittent porphyria