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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 11020 glycogenosis IXA Eponyms: Inheritance: PHK PHKA2 phosphorylase kinase of liver deficiency X-linked recessive Semeiological Metabolic disorder, isolated defect. In males protuberant abdomen, hepatomegaly, growth retardation, delayed puberty, hypoglycemia, hyperlipidemia without muscles involvement and mild symptoms in females. Synthesis: Group Sub group Signs: GASTROINTESTINAL DISORDERS liver dysfunctions, liver anomalies hepatomegaly, liver enlarged JOINT DISORDERS joint, mobility reduction contractures, joint stifness, not including: arthrogriposis, camptodactyly LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome X localization chromosome Xp localization gene, structural-functional anomalies gene analysis-DNA analysis PHKA2 (PHK), gene chr.Xp22.2-p22.1 plasma lipids, anomalies cholesterol, high levels plasma nonprotein-organic constituents, anomalies carbohydrates disorders hypoglycemia uric acid, high levels, hyperuricemia tissue, biochemical changes glycogenosis metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis phosphorylase kinase dificiency MUSCULAR DISEASES systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy OTHERS inheritance inheritance, X-linked recessive SKELETAL DISORDERS stature, growth, modified habitus stature, short, including micromelia, including short limbs Super group: Super aggreg. METABOLIC DISORDERS carbohydrates, disorders Aggregations: metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis OTHER glycogenosis Differential diagnosis: glycogenosis IXA 601 acyl-CoA dehydrogenase deficiency short chain Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 599 acyl-CoA dehydrogenase deficiency, long chain 600 acyl-CoA dehydrogenase deficiency, medium chain 4015 Byrne syndrome 4320 cardiomyopathy, dilated-1A 10150 fructose-1,6- diphosphatase deficiency 10852 glutaricaciduria 10940 glycogenosis IA 10941 glycogenosis IB 10943 glycogenosis IC 10950 glycogenosis IIa 10955 glycogenosis IIb 10960 glycogenosis III 10970 glycogenosis IV 11025 glycogenosis IXB 11026 glycogenosis IXC 11045 glycogenosis limited to heart 11047 glycogenosis muscle X-linked 10980 glycogenosis V, autosomal recessive 10990 glycogenosis VI 11000 glycogenosis VII 11010 glycogenosis VIII 14312 lactate dehydrogenase-A deficiency 14317 lactic acidosis, congenital infantile 14560 Leigh disease, autosomal recessive 28497 Leigh disease, X-linked 28660 Leigh syndrome, French-Canadian type 8575 methylglutaconicaciduria II 17185 muscle cramps familial 17483 myoglobinuria paroxysmal paralytic Aggregation(s) [in differential diagnosis]: - carbohydrates, disorders Bibliography glycogenosis IXA OMIM ID: 306000 Page 2 of 2
