Table 2.
Patients with SAH hydrolase deficiency.
| # | Mutations | Age of onset | Sex | Country of origin | Liver | Muscle | Cognitive | Ref. |
|---|---|---|---|---|---|---|---|---|
| 1 | W112X/Y143C | <1 month | M | Croatia | Hepatitis, hepatic fibrosis | Hypotonia/weakness | Delayed development | [6] |
| 2 | W112X/Y143C | <1 month | M | Croatia | ? | Hypotonia/weakness | Delayed development | [12] |
| 3 | W112X/Y143C | <1 month | M | Croatia | ? | Hypotonia/weakness | ? | [10] |
| 4 | R49C/D86G | <1 month (1 monthb) | F | USA (unreported ethnicity) | Likely liver disease | Hypotonia/weakness | ? | [9] |
| 5 | R49C/D86G | <1 month (4 monthsb) | F | USA (unreported ethnicity) | Liver disease | Hypotonia/weakness | ? | [9] |
| 6 | Y143C/Y328D | 8 months | F | USA (European descent) | Elevated aminotransferases | Hypotonia/weakness | Delayed development | [7] |
| 7 | R49C/G71S | <1 month | F | Czech Republic | Hepatic decompensation | Hypotonia/weakness | Delayed development | [8] |
| 8 | Y143C/A89V | <1 month | M | USA (unreported ethnicity) | At 14 months: liver biopsy ➔ large lipid droplets | Hypotonia/weakness | IQ 64 at age 20 years | [11] |
| 9 | R49H/R49H | 23 years (32b) | F | Pakistan | Hepatocellular carcinoma | Weakness | Low IQ | |
| 10 | (R49H/R49H)a | 3 years (35b) | M | Pakistan | Cirrhosis | Weakness | Low IQ | |
| 11 | (R49H/R49H)a | ? (17b) | M | Pakistan | Hepatocellular carcinoma | Weakness | ? | |
| 12 | R49H/R49H | Asymptomatic at 7 years | M | Pakistan | Elevated aminotransferases | Normal | Normal |
Cases 9–12 are described in the present report. Question marks indicate no information on phenotype available.
a
Mutations not determined, but likely to have been R49H homozygotes.
b
Died at indicated age.