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Summary
HYPOPHOSPHATASIA, CHILDHOOD
241510
OMIM = Online Medalian Inheritance of Men
247667
1p36.12
rare
autosomal recessive
mutation in the ALPL gene
symptoms
craniostenosis
defect of walking, running, rising or climbing
dental caries
dolichocephaly
myopathy
onset, adulthood
onset, childhood
pain, bones or joints
seizures
short stature
skeletal changes, skeletal abnormalities
Teeth: generalized defect or abnormalities
Teeth: premature loss of primary and/or secondary teeth
laboratory finding
Pyridoxal-5-phosphate increasedplasma
Phosphoethanolamine increasedurine
Phosphatase, alkaline decreasedserum
Literature
Fukao T,et al.Ketone body metabolism and its defectsJ Inherit Metab Dis374541-5512014
Al-Hussaini A,et al.Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failureJ Pediatr1363553-5592014
Kalim A,et al.Further evidence that d-glycerate kinase (GK) deficiency is a benign disorderBrain Dev396536-5382017
Tokola AM,Aberg LE, Autti THBrain MRI findings in aspartylglucosaminuriaJ Neuroradiol426345-3572015
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