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Summary
HYPOPHOSPHATASIA, INFANTILE
HYPOPHOSPHATASIA, INFANTILE HYPOPHOSPHATASIA, CHILDHOOD HYPOPHOSPHATASIA, ADULT TYPE
241500
OMIM = Online Medalian Inheritance of Men
436
1p36.12
  • nonsteroidal antiinflammatory drugs
rare
autosomal recessive
Hypophosphatasia may be present in infancy, childhood or adulthood:
- infantile type (MIM 241500)
- childhood type (MIM 241510)
- adult type (MIM 146300)
symptoms
anemia
anorexia
apnea
bone fractures
failure to thrive
high pitched cry
hypotonia
infections (severe or recurrent)
irritability
muscle weakness
nephrocalcinosis
onset, infancy
pain, muscle
pigmentation, skin and sclera
polyhydramnion (maternal)
Premature loss of primary and/or secondary teeth
rickets
seizures
vomiting
laboratory finding
Phosphoethanolamine 0.00155.00increasedurine
Phosphatase, alkaline 20.00150.00lowserum
Osteocalcin decreasedserum
Calcium increasedurine, serum
Literature
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Schubiger Get al.N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxicationEur J Pediatr1500353-3561991
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Sezer T,et al.Novel deoxyguanosine kinase gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndromeJ Child Neurol301124-1282015
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