| H01113 | |
| H number | H01113 |
| Name | Acid phosphatase deficiency |
| Description | Acid phosphatase deficiency is caused by defects in ACP2, that encodes the beta subunit of lysosomal acid phosphatase. The clinical features are intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding, and death in early infancy. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | - |
| Gene | ACP2 [HSA:53] [KO:K14410] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C64.3 ICD-10: E83.3 MeSH: C562645 OMIM: 200950 |
| Reference | PMID:5410815 AUTHORS Nadler HL, Egan TJ TITLE Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder. JOURNAL N Engl J Med 282:302-7 (1970) DOI:10.1056/NEJM197002052820604 PMID:4139985 AUTHORS Nadler HL TITLE Treatment of acid phosphatase deficiency disorders. JOURNAL Birth Defects Orig Artic Ser 9:195-7 (1973) |