Glycogen Storage Disease Type 1
The condition is genetic and it arises in the presence of a glucose-6-phosphate deficiency.[symptoma.com]
Infants have a round “doll” face.[clinicaladvisor.com]
-6-phosphate deficiency glucose-6-phosphate transport defect GSD I GSD type I hepatorenal form of glycogen storage disease hepatorenal glycogenosis von Gierke disease von[ghr.nlm.nih.gov]
Glycogen Storage Disease Type 6
The metabolic consequences of the hepatic glucose-6-phosphate deficiency of von Gierke disease extend well beyond just the obvious hypoglycemia that results from the deficiency[themedicalbiochemistrypage.org]
Infants have a round “doll” face.[clinicaladvisor.com]
[…] of glucose-6-phosphatase Deficiency of glucose-6-phosphate dehydrogenase Generalized glycogen storage disease of infants Glucose 6 phosphatase deficiency Glycogen storage[icd9data.com]
Glycogen Storage Disease due to GLUT2 Deficiency
The metabolic consequences of the hepatic glucose-6-phosphate deficiency of von Gierke disease extend well beyond just the obvious hypoglycemia that results from the deficiency[themedicalbiochemistrypage.org]
Infants have a round “doll” face.[clinicaladvisor.com]
Glucocorticoid deficiency, familial[?] Glucocorticoid resistance[?] Glucocorticoid sensitive hypertension[?] Glucose 6 phosphate dehydrogenase deficiency[?][encyclopedia.kids.net.au]
Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency
[…] freed converted to glucose-6-phosphate debranching enzymes removes α-1,6 linked branches deficiency Cori's disease (type III) liver converts glucose-6-phosphate to glucose[medbullets.com]
Infants have a round “doll” face.[clinicaladvisor.com]
The metabolic consequences of the hepatic glucose-6-phosphate deficiency of von Gierke disease extend well beyond just the obvious hypoglycemia that results from the deficiency[themedicalbiochemistrypage.org]
Glycogen Storage Disease Type 3
GSD Type Ia is caused by a deficiency of glucose-6-phosphatase (G6Pase) primarily in the liver, and GSD Type Ib is caused by a deficiency of glucose-6-phosphate translocase[clinicaltrials.gov]
Infants have a round “doll” face.[clinicaladvisor.com]
-6-phosphatase deficiency), type Ib (glucose-6-phosphate translocase deficiency).[atlasgeneticsoncology.org]
Glycogen Storage Disease Type 9
In phosphorylase kinase-deficient muscle, glucose 6-phosphate, a powerful phosphorylase inhibitor, was 56% of that in normal muscle. 6.[biochemj.org]
Infants have a round “doll” face.[clinicaladvisor.com]
The metabolic consequences of the hepatic glucose-6-phosphate deficiency of von Gierke disease extend well beyond just the obvious hypoglycemia that results from the deficiency[themedicalbiochemistrypage.org]
Optic Atrophy-Intellectual Disability Syndrome
-related DFNB1 Nonsyndromic Hearing Loss and Deafness Glucose-6-Phosphate Dehydrogenase Deficiency * GlutaricAcidemia Type 1 GlycogenStorage Disease Type Ia GlycogenStorage[asia-genomics.com]
Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu]
Factor V Leiden Thrombophilia * FactorXI Deficiency FamilialDysautonomia FamilialMediterranean Fever FanconiAnemia Type C FragileX Syndrome Galactosemia GaucherDisease GJB2[asia-genomics.com]
Autosomal Dominant Mental Retardation Type 21
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency RBC Disease X-Linked Recessive.[kumc.edu]
Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu]
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency ------ no hexose monophosphate shunt ------ deficiency in NADPH ------ inability to maintain glutathione in reduced form[kumc.edu]
Congenital Non-Progressive Ataxia
[…] of glucose 6-phosphate dehydrogenase Dehydrated hereditary stomatocytosis Diastrophic dysplasia Diffuse gastric cancer Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidine[igenomix.us]
Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu]
-6-Phosphate Dehydrogenase Deficiency Glucose-Galactose Malabsorption Glucose Transporter Type 1 Deficiency Syndrome Glutaricaciduria I Glutaricaciduria II Glycogen Storage[arrayit.com]
Wolf-Hirschhorn Syndrome
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency RBC Disease X-Linked Recessive.[kumc.edu]
Microcephaly Round, moonlike face Wide-set, downward-slanting eyes Strabismus Epicanthal folds Williams syndrome Type of abnormality: deletion Critical region: 7q11.23 Mental[alpfmedical.info]
Note the round face with full cheeks, hypertelorism, epicanthal folds, and apparently low-set ears. Child with cri-du-chat syndrome.[emedicine.medscape.com]