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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 10990 glycogenosis VI Eponyms: Inheritance: glycogen phosphorylase liver deficiency Hers disease phosphorylase hepatic deficiency PPYL PYGL autosomal recessive Semeiological Metabolic disorder, isolated defect. Hypoglycemia, hepatomegaly, hypotonia, growth retardation. Synthesis: Group Sub group Signs: LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 14q localization gene, structural-functional anomalies gene analysis-DNA analysis PYGL phosphorylase, glycogen liver, gene chr.14q21-q22 plasma lipids, anomalies cholesterol, high levels triglycerids, high levels plasma nonprotein-organic constituents, anomalies carbohydrates disorders hypoglycemia tissue, biochemical changes glycogen phosphorylase hepatic, low activity glycogenosis MUSCULAR DISEASES systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy OTHERS inheritance inheritance, autosomal recessive PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, molecular Super group: Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: METABOLIC DISORDERS carbohydrates, disorders OTHER glycogenosis Differential diagnosis: glycogenosis VI 601 acyl-CoA dehydrogenase deficiency short chain 599 acyl-CoA dehydrogenase deficiency, long chain 600 acyl-CoA dehydrogenase deficiency, medium chain 4015 Byrne syndrome 4320 cardiomyopathy, dilated-1A 5700 cirrhosis familial Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 27260 10852 10940 10941 10943 10950 10955 10960 10970 11020 11025 11026 11045 11047 10980 11000 11010 14312 14317 14560 28497 28660 8575 17483 foetal hepatitis B infection glutaricaciduria glycogenosis IA glycogenosis IB glycogenosis IC glycogenosis IIa glycogenosis IIb glycogenosis III glycogenosis IV glycogenosis IXA glycogenosis IXB glycogenosis IXC glycogenosis limited to heart glycogenosis muscle X-linked glycogenosis V, autosomal recessive glycogenosis VII glycogenosis VIII lactate dehydrogenase-A deficiency lactic acidosis, congenital infantile Leigh disease, autosomal recessive Leigh disease, X-linked Leigh syndrome, French-Canadian type methylglutaconicaciduria II myoglobinuria paroxysmal paralytic Aggregation(s) [in differential diagnosis]: - carbohydrates, disorders Bibliography glycogenosis VI OMIM ID: 232700 Annuario Orphanet-Italia delle Malattie Rare, 2005 pag.402 Page 2 of 2
