OMIM = Online Medalian Inheritance of Men
very rare
autosomal dominant
mutation in the PRKAG2 gene
glycogen accumulation in the cardiac tissue

We highlight the potential for patients with PRKAG2 mutations to mimic Pompe disease in infancy and the need for confirmatory testing when diagnosing Pompe disease [Torok RD 2017]
cardiac arrhythmia, dysrhythmia
cardiomyopathy, hypertrophic
onset, childhood
onset, infancy
Wolf-Parkinson-White syndrome
laboratory finding
ECG abnormalities -
Edvardsson VO,et al.Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trialEur J Intern Med48075-792018
Verloes A,et al.Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfallClin Genet475257-2621995
Oyake C,et al.Minimum allopurinol dose for adenine phosphoribosyl transferase deficiencyPediatr Int59101097-10982017
Watkins D,et al.Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single probandJ Med Genet489590-5922011
Fleming LR,et al.Prospective Evaluation of Kidney Disease in Joubert SyndromeClin J Am Soc Nephrol12121962-19702017
Weidensee S,et al.A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor bindingClin Biochem448722-7242011
Krishnappa P,Krishnamoorthy V, Gowda KKDihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case reportIndian J Urol333246-2482017
Rathod DM,et al.Simultaneous analysis of allopurinol and oxypurinol using a validated liquid chromatography-tandem mass spectrometry method in human plasmaJ Pharm Anal7156-622017
Gopalakrishnan N,et al.Unusual cause of crystalline nephropathySaudi J Kidney Dis Transpl292462-4652018
Malaki M,Nemati M, Shoaran MJoubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problemSaudi J Kidney Dis Transpl232325-3292012
Pasquali M, Longo NAmino acidsIn: Nenad Blau N, Duran M, Gibson KM, Dionisi-Vici C (eds) PhysicianÔÇÖs guide to the laboratory diagnosis of metabolic diseases. Springer, Berlin/Heidelberg/New York007522014
Burda P,et al.Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatmentJ Inherit Metab Dis385863-8722015
Day RO,et al.Clinical pharmacokinetics and pharmacodynamics of allopurinol and oxypurinolClin Pharmacokinet468623-6442007
Haumaitre C,et al.Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutationsHum Mol Genet15151363-23752006
Kamiya M,et al.Glutaric aciduria type II: autopsy study of a case with electron-transferring flavoprotein dehydrogenase deficiencyPediatr Pathol1061007-10191990