Table 1.
Clinical and laboratory findings in the 3 patients with TMEM199-CDG
| Family 1 | Family 2 | |||||
|---|---|---|---|---|---|---|
| Patient 1 | Patient 2 | Patient 3 | ||||
| Onset | Last follow-up | Onset | Last follow-up | Onset | Last follow-up | |
| Age (years) | 2 | 27 | 2 | 24 | 1.4 | 2.4 |
| Gender | F | M | M | |||
| Glycosylation profile | Type 2 CDG pattern | Type 2 CDG pattern | Type 2 CDG pattern | |||
| Symptoms | None | None | None | None | None | None |
| Clinical Examination | Slight hepatomegaly |
normal | Slight hepatomegaly |
normal | Slight hepatomegaly |
normal |
| Neurological Development | Normal | Normal | Normal | Normal | Mild Delay of Speech | Normal |
| Brain MRI and mineral content | Normal | Normal | Not done | |||
| Malformations | None | None | None | |||
| AST (nv < 41 U/L) | 349 | 53 | 299 | 98 | 656 | 156 |
| ALT (nv < 45 U/L) | 329 | 23 | 221 | 50 | 437 | 104 |
| ALP (nv < 475 U/L) | 1995 | 1140 | 3990 | 903 | 1235 | 713 |
| TOTAL CHOL (nv < 200 mg/dL) | 340 | 300 | 240 | 220 | 140 | 160 |
| HDL CHOL (nv > 45 mg/dL) | 49 | 54 | 45 | 46 | 49 | 54 |
| LDL-CHOL (nv < 160 mg/dL) | 256 | 240 | 176 | 177 | 96 | 98 |
| CK (nv 0-170 U/L) | 799 | 561 | 442 | 1428 | 510 | 204 |
| Ceruloplasmin (nv 20-46 mg/dL) | 6 | 8 | 4 | 6 | 8 | 8.4 |
| Haptoglobin (nv 30-250 mg/dL) | 20 | 40 | 40 | 40 | 30 | 30 |
| Serum Copper (nv 69-122 μg/dL) | < 40 | < 40 | < 40 | < 40 | < 40 | < 40 |
| Urinary Copper (basal and after penicillamine) | Normal | Normal | Normal | Normal | Not Done | Normal |
| Coagulation Parameters | Normal/Borderline | Normal | Normal/Border-line | Normal | Normal | Low ATIII activity |
| Liver Ultrasonography | Bright liver | Inhomogeneous echogenicity | Bright liver | Normal | Hepatomegaly Bright liver |
Hepatomegaly Bright liver |
| Liver Histology | Mild periportal fibrosis; focal steatosis (ages 6 & 9) | Mild periportal fibrosis; focal steatosis (ages 2 & 5) |
Not done | |||
| Liver EMa | No Wilsonian changes (age 6) | No Wilsonian changes (age 6) | Not done | |||
| Liver Copper (nv < 50 μg/g dry weight) | 318 μg/g at age 6;280 μg/g at age 9 | 250 μg/g at age 2: 312 μg/g at age 5 | Not done | |||
| Wilson Disease molecular studyb | Negative | Negative | Negative | |||
| Treatments | Vitamin D × 1 yr at age 4; Penicillamine for 6 mos at age 5 with no effects | None | None | |||
Abbreviations: ALP alkaline phosphatase, ALT alanine aminotransferase, AST aspartate aminotransferase, AT III antithrombin III, CHOL cholesterol, CK, creatine kinase, EM electron microscopy, MRI magnetic resonance imaging
aCourtesy of Prof. I. Sternlieb; NY, USA
bCourtesy of Dr. J Loudianos, University of Cagliari – Italy