Biomaterial Database

Renal tubular acidosis associated with type III glycogenosis. 1979

J Cohen, and M Friedman

Two children who presented with severe failure to thrive were found to have Type III glycogen storage disease. They both also had defects of tubular acidification, an association not previously described. The nature of the tubular lesion is characterized and the explanation and therapeutic implications are discussed.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297	Male		Males
D006008	Glycogen Storage Disease	A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.	Glycogenosis,Disease, Glycogen Storage,Diseases, Glycogen Storage,Glycogen Storage Diseases,Glycogenoses,Storage Disease, Glycogen,Storage Diseases, Glycogen
D006010	Glycogen Storage Disease Type III	An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.	Cori's Disease,Debrancher Deficiency,Forbes Disease,Glycogen Debranching Enzyme Deficiency,Glycogenosis 3,Limit Dextrinosis,Amylo-1,6-Glucosidase Deficiency,Cori Disease,Deficiency, Debrancher,Glycogen Debrancher Deficiency,Glycogen Storage Disease III,Glycogen Storage Disease Type 3,Amylo 1,6 Glucosidase Deficiency,Amylo-1,6-Glucosidase Deficiencies,Coris Disease,Debrancher Deficiencies,Debrancher Deficiencies, Glycogen,Debrancher Deficiency, Glycogen,Deficiencies, Amylo-1,6-Glucosidase,Deficiencies, Debrancher,Deficiencies, Glycogen Debrancher,Deficiency, Amylo-1,6-Glucosidase,Deficiency, Glycogen Debrancher,Dextrinoses, Limit,Dextrinosis, Limit,Disease, Cori,Disease, Cori's,Disease, Forbes,Glycogen Debrancher Deficiencies,Glycogenosis 3s,Limit Dextrinoses
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000141	Acidosis, Renal Tubular	A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.	Renal Tubular Acidosis,Renal Tubular Acidosis, Type I,Renal Tubular Acidosis, Type II,Type I Renal Tubular Acidosis,Type II Renal Tubular Acidosis,Acidosis, Renal Tubular, Type I,Acidosis, Renal Tubular, Type II,Autosomal Dominant Distal Renal Tubular Acidosis,Classic Distal Renal Tubular Acidosis,Distal Renal Tubular Acidosis,Proximal Renal Tubular Acidosis,RTA, Classic Type,RTA, Distal Type, Autosomal Dominant,RTA, Gradient Type,RTA, Proximal Type,Renal Tubular Acidosis 1,Renal Tubular Acidosis I,Renal Tubular Acidosis II,Renal Tubular Acidosis, Distal, Autosomal Dominant,Renal Tubular Acidosis, Proximal,Renal Tubular Acidosis, Proximal, with Ocular Abnormalities,Classic Type RTA,Classic Type RTAs,Gradient Type RTA,Gradient Type RTAs,Proximal Type RTA,Proximal Type RTAs,RTAs, Classic Type,RTAs, Gradient Type,RTAs, Proximal Type

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