Table 1. Genetic and clinical features of Japanese patients with abetalipoproteinemia.
| Authors | Age | Gender | Mutation ( MTTP ) | Type | Consanguinity | Biochemical parameters (mg/dL) | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TC | TG | LDL-C | HDL-C | cLDL-C | apoB | Vitamin E | ||||||
| Yang XP et al. 28) | 29 | M | c.1237-1G＞A | Ho | No (Uniparental disomy) | 33 | 0 | N.D. | 28 | 5 | 0 | ＜0.1 |
| Ohashi K et al. 29) | 32 | F | c.1389del | Ho | Yes | 42 | 0.2 | N.D. | 36 | 6.0 | 0.9 | ＜0.1 |
| Ohashi K et al. 29) | 27 | M | c.2338A＞T (p.N780Y) | Ho | Yes | 34 | 2.6 | N.D. | 23 | 10.5 | 0.6 | ＜0.1 |
| Sakamoto O et al. 30) | 15mo | M | c.61+1G＞C c.1691T＞C (p.I564T) | C. het | N.D. | 46-92 | 10-100 | N.D. | N.D. | - | ＜7.0 | 0.43 |
| Authors | Clinical features | |||||||||||
| Gastrointestinal | Neuromuscular | Ophthalmological | Hematological | |||||||||
| Yang XP et al. 28) | Frequent diarrhea, fat malabsorption with malnutrition, and short stature (from childhood); lipid-laden enterocytes by intestinal biopsy (29 years old). | Cerebellar and posterior spinal column dysfunction, decreased deep tendon reflexes, impaired vibratory sense and proprioception, dysmetria, ataxia, spastic gait, and positive Chaddock sign (29 years old). | Suspected loss of night vision (3 years old); descreased vision in dim light, visual field defects, and pigmentary retinal degeneration (29 years old). | Acanthocytosis | ||||||||
| Ohashi K et al. 29) | Intolerance for fat-rich meals; snow- white duodenum and lipid-laden enterocytes by biopsy (32 years old). | Absent ankle and knee jerks, positive Romberg’s sign (32 years old). | Fine mottling in the retina (32 years old). | Acanthocytosis (32 years old). | ||||||||
| Ohashi K et al. 29) | Mild fatty liver, no history of steatorrhea | Normal | Normal | Acanthocytosis | ||||||||
| Sakamoto O et al. 30) | Hepatomegaly and fatty liver, no steatorrhea. | Normal | Normal | No acanthocytosis | ||||||||
＊ Age (years or months (mo)) at molecular diagnosis; M = Males; F = Females; Ho = homozygous; C. het = compound heterozygous; TC, total cholesterol; TG, triglyceride; LDL-C, low-density lipoprotein cholesterol; HDL-C, high-density lipoprotein cholesterol; cLDL-C, calculated LDL-C; N.D., Not described.