MRCP revision battle 49.1: Homocystinuria
MRCP revision battle 49.2: Nail-patella syndrome
MRCP revision battle 49.3: Golfers and Tennis Elbow
MRCP revision battle 49.4: Whipples disease
MRCP revision battle 49.5: Hypermagnesaemia
MRCP revision battle 49.6: Osteoporosis
MRCP revision battle 49.7: Osteogenesis Imperfecta
MRCP revision battle 49.1: Homocystinuria
Homocystinuria is an autosomally recessive inherited condition in which there is decreased activity of cystathionine beta synthase resulting in accumulation of homocysteine and methionine which interferes with collagen cross-linkage.
Features include:
- Marfanoid body habitus
- spontaneous retinal detachment
- downwards lens dislocation
- osteoporosis
- venous and arterial thrombosis
- low IQ
Diagnosis is with the cyanide nitroprusside test which detects elevated urinary homocysteine.
Treatment is:
- methionine restriction
- cysteine supplements
- pyridoxine supplements
Now to nail-patella syndrome...
