Table 1.
SLC13A5OB | SLC25A1 | |
---|---|---|
Median lifespan | Reduced | Normal |
Maximum lifespan | Reduced | Normal |
Body weight | Reduced | Reduced |
Hunched posture | Common | Normal |
Hair loss | Pronounced | Normal |
Hair regrowth | Reduced | Normal |
Skin lesions | Pronounced | Normal |
Wound repair | Retarded | Normal |
Dermal thickness | Increased | Normal |
Adipose tissue | Reduced | Reduced |
Bone density | Reduced | Normal |
Liver size | Normal | Reduced |
Spleen size | Increased | Normal |
Lymph nodes size | Increased | Normal |
Gallbladder size | Normal | Enlarged |
Rectal prolapse | Common | Normal |
Systemic inflammation | Increased | Normal |
Peripheral WBC | Neutrophilia | Normal |
Peripheral RBC | Normal | Normal |
Citrate (cytoplasm) | Increased | Increased |
Ac-CoA (cytoplasm) | Increased | Increased |
Ac-CoA (ER) | Increased | Increased |
Glycemia (fasting) | Normal | Normal |
Ketone bodies (fasting) | Increased | Increased |
Lipid droplets (number) | Increased | Increased |
Lysosome (number) | Increased | Normal |
Mitochondria (surface) | Increased | Increased |
WBC white blood cell count, RBC red blood cell count