Hereditary fructose intolerance
- Missing enzyme aldolase B
- Fructose or sucrose hepatotoxic if ingested
- increased urate - low sugar
Galactosemia (Gal-1-POT)
- Unable to metabolise galactose
- 3 forms: GALT, GALK, GALE with GALT being most severe
- Similar issues and treatment as fructose
Maple syrup urine disease
- Cannot break down amino acids: leucine, isoleucine + valine
- Repeated periods of physical stress can damage brain
- High levels of leucine can build up
Phenylketonuria
- Cannot breakdown amino acid phenylalanine
- Plays a role in melanin → PKU lighter skin & hair
Porphyria
- 8 enzymes needed to change porphyrins to heme
- Dysfunction in anyone can lead to porphyria + build up of porphyrins
- Abdo pain + digestive problems
- Red/brown urine
Peroxisomal disorders
- Cannot breakdown long chain fatty acids for energy
- Accumulation of LCFAs
- No energy available at time of physiological stress
Homocystinuria
- Cannot process methionine→ accumulation of homocysteine 00
- Near sightedness - osteoporosis
- 30 year prognosis
Androgen insensitivity syndrome
- Defect in androgen receptors
- Patients are genetically male
- Varying phenotype from healthy female to ambiguous genitalia