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Summary
HYPEROXALURIA, PRIMARY, TYPE III, PH3
613616
OMIM = Online Medalian Inheritance of Men
93600
10q24.2
rare
autosomal recessive
mutations in HOGA1
symptoms
cardiomyopathy
failure to thrive
growth retardation
infections (urinary tract)
nephrocalcinosis
optic atrophy
pain, bones or joints
renal dysfunction, renal defects
renal failure, acute/chronic
retinopathy
urolithiasis, kidney stones
laboratory finding
Oxalic acid increasedurineall
2,4-Dihydroxyglutaric acid increasedurine
4-Hydroxy-2-oxoglutaric acid increasedurine
Literature
Trefz FK,et al.Management of adult patients with phenylketonuria: survey results from 24 countriesEur J Pediatr1741119-1272015
Murphy EMedical Problems in Obstetrics: Inherited Metabolic DiseaseBest Pract Res Clin Obstet Gynaecol295707-7202015
Feillet F,et al.Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight casesJ Inherit Metab Dis375753-7622014
Xiong X,et al.A GC/MS-based metabolomic approach for reliable diagnosis of phenylketonuriaAnal Bioanal Chem407298825-88332015
Gizewska M,et al.Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey resultsEur J Pediatr1752261-2722016
MacDonald A,et al.The challenges of managing coexistent disorders with phenylketonuria: 30 casesMol Genet Metab11640242-2512015