ChemPath from metabolic disorders

Question 1

Raised phenylalanine, blue eyes, fair skin (give Tx)

Answer 1

PKU → restrict phenylalanine

Question 2

Sweaty feet

Answer 2

Maple syrup urine

Question 3

Metabolic acidosis, raised anion gap, funny smelling urine (+ Tx)

Answer 3

Organic acidaemia → low protein diet

Question 4

Raised ammonia, encephalopathy, respiratory alkalosis (+ Tx)

Answer 4

Urea cycle defect → low protein diet

Question 5

Low ketones, raised acylcarnitine on tandem mass spectrometry (+ Tx)

Answer 5

MCADD → never allow to be hypoglycaemic → regular carbs

Question 6

Bilateral cataracts, hypoglycaemia, renal/kidney dysfunction, raised galactose in urine (+ Tx)

Answer 6

Galactosaemia → low galactose diet

Question 7

Hypoglycaemia, hepatomegaly, lactic acidosis (+ Tx)

Answer 7

Glycogen storage disease (Von Gierke’s) → high carb diet

Question 8

Dysmorphic features, multi-system disease, raised transferrin

Answer 8

Glycosylation disorder

Question 9

Severe hypotonia with retinopathy

Answer 9

Peroxisomal disorder

Question 10

urine mucopolysaccharides + organomegaly

Answer 10

Tay Sachs / lysosomal storage disease

Question 11

Lactic acidosis, brain + muscle + heart involvement

Answer 11

MELAS (mitochondrial encephalopathy lactic acidosis syndrome)

Question 12

Abdominal pain, peripheral neuropathy, psychosis, red urine, constipation + blistering on the back of hands in the sun

Answer 12

Hereditary porphyria (COPOX) OR variegate porphyria (PPOX)

Question 13

Abdominal pain, peripheral neuropathy, psychosis, red urine, constipation, weakness

Answer 13

Acute intermittent porphyria (HMB synthase) OR ALA-S deficiency

Question 14

Stool sample → faecal coproporphyrinogen III

Answer 14

Hereditary or variegate porphyria

Question 15

Urine sample → porphobilinogen and aminolevulinic acid

Answer 15

Acute intermittent porphyria

Question 16

pink/red fluorescence on wood’s lamp, abnormal LFTs, raised ferritin

Answer 16

Blistering chronic prophyria → Porphyria Cutanea Tarda (PCT)PCT

Question 17

RBC protoporphyrin

Answer 17

Non-blistering chronic porphyria → EPP