Clinical signs | Age at onset of symptoms | Transient or permanent symptoms | Prevalence in childhood | Power of discrimination |
---|---|---|---|---|
Anthropometry | ||||
Failure to thrive | Infancy (1 to 6 m) | transient if low LCFA diet | 80% | + |
Gastrointestinal symptoms and signs | ||||
Diarrhea | Infancy (1 to 6 m) | transient if low LCFA diet | 100% | + |
Vomiting | Infancy (1 to 6 m) | transient if low LCFA diet | 60% | + |
Abdominal distension | Infancy (1 to 6 m) | transient if low LCFA diet | 65% | + |
Hepatomegaly, Steatosis | Infancy or late childhood | transit or permanent | 15% | |
Neurology | ||||
Retinopathy | Adult | permanent | 100% | +++ |
Visual abnormalities | Late childhood or adult (6 to 10 y) | transient if early treatment | 30% | + |
Hypo or Areflexia | Late childhood or adult (4 to 10 y) | permanent | 5% | + |
Myopathy | Adult | permanent | 0% | + |
EMG abnormalities | Late childhood or adult (4 to 10 y) | transient if early treatment | 25% | + |
Decreased proprioception | Late childhood or adult (4 to 10 y) | transient if early treatment | 0% | + |
Cardiomyopathy/Biological signs | Adult | permanent? | 0% | + |
Normal TG§ | Infancy (1 to 6 m) | transit or permanent | 90% | +++ |
Low Total cholesterol§§ | Infancy (1 to 6 m) | permanent | 100% | moderate decrease ++ |
Low LDL† | Infancy (1 to 6 m) | permanent | 100% | moderate decrease ++ |
Low HDL†† | Infancy (1 to 6 m) | permanent | 100% | +++ |
Normal Fasting lipids in parents | 100% | + | ||
High CK (N < 100 mmol/L) | Infancy (1 to 6 m) - (460 ± 100) | permanent | 60% | +++ |
Hepatic cytolysis (ALT < 40 mmol/L) | Infancy to late childhood - (60 ± 20) | transient or permanent | 95% | + |
Vitamin E deficiency (N > 18.4 μmol/L) | Infancy (1 to 6 m) - (2.7 ± 0.3) | permanent | 95% | + |
Vitamin A deficiency (N > 1.61 μmol/L) | Infancy (1 to 6 m) - (0.8 ± 0.5) | transit if supplementation | 70% | + |
Vitamin D deficiency (N > 50 nmol/L) | Infancy (1 to 6 m) - (31 ± 17) | transit if supplementation | 45% | + |
Vitamin K deficiency (N > 2.26 mmol/L) | Infancy (1 to 6 m) - (1.15 ± 0.6) | transit if supplementation | 45% | + |
Steatorrhea (N < 5 g/d) | Infancy (1 to 6 m) - (7.5 ± 3.6) | transit or permanent | 85% | + |
Negative Oral Fat Load | Infancy (1 to 6 m) | Permanent ? | 100% | + |
No acantocytosis | Infancy (1 to 6 m) | transit or permanent | 90% | +++ |
EFA deficiency* (20:3n-9/20:4n-6) | Infancy to late childhood | permanent but variations | 55% | + |
Endoscopic and histological signs | ||||
White duodenal mucosa | Infancy (1 to 6 m) | permanent? Fat load dependent | 100% | ++ |
Enterocyte vacuolization, chylomicron-like | Infancy (1 to 6 m) | permanent? Fat load dependent | 100% | ++ |