Biomaterial Database

Facial appearance in glycogen storage disease type III. 2002

M A Cleary, and J H Walter, and B A Kerr, and J E Wraith

Willink Biochemical Genetics Unit, Manchester Children's Hospitals NHS Trust, Pendlebury, Manchester, UK. maureencleary@hotmail.com

Amylo-1,6-glucosidase deficiency (glycogen storage disease type III) is associated with hypoglycaemia, hepatomegaly, raised transaminases and in most cases skeletal myopathy and cardiomyopathy. The disorder has not been considered to cause dysmorphism. We report consistent facial features in seven patients with GSD type III consisting of midface hypoplasia with a depressed nasal bridge and a broad upturned nasal tip, indistinct philtral pillars, and bow-shaped lips with a thin vermillon border. Younger patients had in addition deepset eyes. Several children had clinical problems such as persistent otitis media or recurrent sinusitis. The underlying aetiology of these features is unknown but the similarity in all our patient suggests that there is a facial phenotype for this disorder.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D001827	Body Height	The distance from the sole to the crown of the head with body standing on a flat surface and fully extended.	Body Heights,Height, Body,Heights, Body
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005260	Female		Females
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
D019066	Facies	The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)