Week 1

Question 1

Urine smells sweet. Neurotoxicity, low muscle tone, inability to wake up

Answer 1

Maple syrup urine disease (Branched chain alpha ketoacid dehydrogenase problem. Valine, isoleucine, leucine)

Question 2

Musty urine smell. Intellectual delay, seizures, tremors, low melanin.

Answer 2

PKU (phenylalanine hydroxylase problem) or BH4 deficiency (dihydropteridine reductase)

Question 3

Dark pigment in skin and joints, black urine after letting it sit, severe arthritis

Answer 3

Alkaptonuria (deficient homogentisic acid oxidase)

Question 4

Accumulation of fumarylacetoacetate and maleylacetoacetate, liver and kidney damage, cabbage like smell in sweat and urine

Answer 4

Tyrosinemia type 1 (defect in fumarylacetoacetatehydrolase)

Question 5

Accumulation of tyrosine, eyes (corneal ulcers), skin (palmoplantar keratosis), CNS (intellectual disability)

Answer 5

Tyrosinemia type 2 (defect in tyrosine aminotransferase)

Question 6

Confusion, ataxia, and oculomotor dysfunction/ophthalmoplegia (nystagmus and conjugate gaze palsies). Impaired glucose breakdown and atp depletion

Answer 6

Wernicke Korsakoff syndrome - caused by a deficiency of thiamine, a cofactor for pyruvate dehydrogenase, alpha ketoglutarate dehydrogenase and transketolase.