KEGG   DISEASE: H01113Help
Entry
H01113                      Disease                                

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 disease; Lysosomal storage disease
BRITE hierarchy
Pathway
Riboflavin metabolism
Lysosome
Gene
ACP2 [HSA:53] [KO:K14410]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
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)
Reference
PMID:4139985
  Authors
Nadler HL
  Title
Treatment of acid phosphatase deficiency disorders.
  Journal
Birth Defects Orig Artic Ser 9:195-7 (1973)

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