Table 2 of
Alsalamah, Mol Vis 2021; 27:396-402. Table 2 of
Alsalamah, Mol Vis 2021; 27:396-402.
Table 2. Alpha-methylacyl-CoA racemace (AMACR) deficiency patients.
| Author/year (reference) | No. of patients | Age of onset (years) /sex | Findings (no. of patients) | AMACR pathogenic variant (homozygous) |
|---|---|---|---|---|
| Ferdinandusse/2000 (4) McLean/2002† (6) | 3 | 18/M†, 48/F, 1/M ‡ | Seizures (1), encephalopathy (1), retinitis pigmentosa (1), sensory-motor neuropathy (3), migraine (1), hypogonadism (1), learning difficulties (1) | c.154 T>C [p.S52P] in two, c.320 T>C [p.L107P] in the child |
| Van Veldhoven/2001 (5) | 1 | 1/F | Hematochezia (secondary to a coagulopathy from vitamin K deficiency), giant-cell neonatal hepatitis | NA |
| Setchell /2003 (7) | 1 | 1/F | Cholestatic liver disease, hematochezia (secondary to a coagulopathy from vitamin K deficiency), fat-soluble vitamin deficiency | c.154 T>C [p.S52P] |
| Clarke/2004 (8) | 1 | 36/F | Seizures, encephalopathy, retinitis pigmentosa, cataract, tremor, cerebellar signs, neuropathy, depression, migraine | c.154 T>C [p.S52P] |
| Thompson/2008 (9) | 1 | 13/F | Seizures, encephalopathy, sensory-motor neuropathy, cognitive decline, depression, homonymous hemianopia | c.154 T>C [p.S52P] |
| Smith/2010 (11) | 1 | Early adulthood/M | Seizures, encephalopathy, retinitis pigmentosa, sensory neuropathy, hypogonadism, learning difficulties | c.154 T>C [p.S52P] |
| Kapina/2010 (10) | 1 | 23/M | Rhabdomyolysis, stroke-like episodes, seizures, encephalopathy, sensory neuropathy, degenerative retinopathy, schizophrenia | c.559 G>A [p.G187R] |
| Stewart/2011 (13) | 1 | 25/M | Seizures, encephalopathy, pigmentary retinopathy, low testosterone level | NA |
| Dick/2011 (12) | 1 | 50/M | Seizures, cerebellar signs, sensory-motor neuropathy, decline in short-term memory | c.154 T>C [p.S52P] |
| Haugarvoll /2013 (14) | 2 | 30/M, 33/F | Seizures (2), encephalopathy (2), tremor (1), sensory-motor neuropathy (2), pigmentary retinopathy (2), cataract (2), type 2 diabetes (2) | c.367 G>A [p.Asp123Asn] |
| Alsalamah/2020§ | 3 | 2/M, 12/F, 13/F | Cholelithiasis (2), cholestatic liver disease (3), subtle retinopathy (3), fat-soluble vitamin deficiency (3), learning difficulties (3) | c.877T>C [p.C293R] |