INHERITED METABOLIC CONDITIONS
INHERITED METABOLIC CONDITIONS
- Phenylketonuria
- Unable to break down phenylalanine
- Developmental delay, learning difficulties, seizures
- MCADD
- Impaired fat metabolism
- High C8 carnitine levels
- Glutaric acidaemia type 1
- Poor growth, hypotonia
- Dystonia, developmental delay
- Brain damage
- Metabolic crisis risk <1 year
- Maple syrup urine disease
- Enzyme defects affecting leucine, valine, isoleucine
- Normal at birth
- Maple syrup odour
- Metabolic crisis <1 week
- Homocystinuria
- High blood/urine homocysteine
- Short stature, hyperlaxity, pectus excavatum
- Osteoporosis
- Lens dislocation
- Learning disability
- Stroke risk
- Psychiatric disorders
- Isovaleric acidaemia
- Acute form: presents days/weeks, distinctive odour, poor feeding, weight loss Mild form: periodic severe ketosis.