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Summary
ODONTOHYPOPHOSPHATASIA
HYPOPHOSPHATASIA, MILD
146300
OMIM = Online Medalian Inheritance of Men
247676
1p16.12
rare
autosomal dominant
autosomal recessive
mutations in the tissue nonspecific ALP gene (TNSALP)
Hypophosphatasia may be present in infancy, childhood or adulthood:
- infantile type (MIM 241500)
- childhood type (MIM 241510)
- adult type (MIM 146300)
symptoms
dental caries
no clinical signs or symptoms
onset, childhood
skeletal changes, skeletal abnormalities
Teeth: generalized defect or abnormalities
Teeth: premature loss of primary and/or secondary teeth
laboratory finding
Pyridoxal-5-phosphate increasedserum
Phosphatase, alkaline decreasedserum
Phosphoethanolamine increasedurine
Literature
Fourcade S,Ferrer I, Pujol AOxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degenerationFree Radic Biol Med88018-292015
Pujol ANovel Therapeutic Targets and Drug Candidates for Modifying Disease Progression in Adrenoleukodystrophy.Endocr Dev300147-1602016
Al-Hussaini A,et al.Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failureJ Pediatr1363553-5592014
Alfadhel M,Kattan RAromatic amino Acid decarboxylase deficiency not responding to pyridoxine and bromocriptine therapy: case report and review of response to treatmentJ Cent Nerv Syst Dis601-52014
Jiang MY,et al.Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South ChinaMetab Brain Dis3061439-14442015
Lee LK,et al.A rare cause of severe diarrhoea diagnosed by urine metabolic screening: aromatic L-amino acid decarboxylase deficiency.Hong Kong Med J202161-1642014