OMIM = Online Medalian Inheritance of Men
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)
dental caries
no consistent 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
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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
Gruenert SC,et al.3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patientsMol Genet Metab1213206-2152017
Sulaiman RA,et al.Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body MetabolismJIMD Rep002017