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48 Possible Causes for Glycogen Storage Disease Type 1, Round Face in Infancy

  • Glycogen Storage Disease Type 1

    Infants have a round “doll” face.[clinicaladvisor.com] Glycogen storage disease type 1 (GSD1) is an inborn error of metabolism caused by deficiency of glucose-6-phosphatase, the enzyme catalysing the conversion of glucose-6-phosphate[ncbi.nlm.nih.gov] Glycogen storage disease type 1 (GSD 1), also known as von Gierke's disease or Glycogen storage disease due to G6P deficiency, is the most common of the glycogen storage diseases[symptoma.com]

  • Glycogen Storage Disease Type 3

    Infants have a round “doll” face.[clinicaladvisor.com] Glycogen Storage Diseases: Type # 1. von Gierke’s Disease : a.[biologydiscussion.com] How Common Is Glycogen Storage Disease Type III? The incidence of GDS III is 1 in 100,000.[counsyl.com]

  • Glycogen Storage Disease Type 6

    Infants have a round “doll” face.[clinicaladvisor.com] […] deficiency Glycogen storage disease Glycogen storage disease type III Glycogen storage disease type VIII Glycogen storage disease, type 1 Glycogen storage disease, type 2[icd9data.com] Type I glycogen storage disease (GSD I), also known as von Gierke’s disease, is the most common form of glycogen storage disease, accounting for 25% of all cases.[liverfoundation.org]

  • Glycogen Storage Disease due to GLUT2 Deficiency

    Infants have a round “doll” face.[clinicaladvisor.com] Glycogen Storage Disease Type 1 G6Phosphatase defect (Von Gierke Disease) Type 1A: g6pase defect/ type 1b: Transporter defect Hypoglycemia occurs from inability of liver to[studyblue.com] Glycogen storage disease type XI Other names Fanconi–Bickel syndrome Glycogen storage disease type XI is a form of glycogen storage disease.[en.wikipedia.org]

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    Infants have a round “doll” face.[clinicaladvisor.com] Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1.[tp.amegroups.com] storage disease type i, von gierke disease glucose-6-phosphatase, catalytic, 1 G6PC G6PC1 G6PT GSD1A 613742 4056 glucosidase, alpha, acid glycogen storage disease type II[ukgtn.nhs.uk]

  • Glycogen Storage Disease Type 9

    Infants have a round “doll” face.[clinicaladvisor.com] Renal function in glycogen storage disease type 1, natural course, and renopreservative effects of ACE inhibition.[ncbi.nlm.nih.gov] "Glycogen Storage Disease Type IX". Journal of Pediatric Gastroenterology and Nutrition . 55 (1): 90–92. doi : 10.1097/MPG.0b013e31823276ea . PMID 21857251 .[en.wikipedia.org]

  • Glycogen Storage Disease due to Liver Phosphorylase Kinase Deficiency

    Infants have a round “doll” face.[clinicaladvisor.com] […] deficiency Glycogen storage disease Glycogen storage disease type III Glycogen storage disease type VIII Glycogen storage disease, type 1 Glycogen storage disease, type 2[icd9data.com] Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1.[tp.amegroups.com]

  • Barth Syndrome

    In early childhood, the face is round with full cheeks and an overall “cherubic” appearance (see Figure 8 ), whereas after the first decade and especially after puberty, the[ncbi.nlm.nih.gov] Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). Blood. 2003 ; 101 : 5021 -5024.[dx.doi.org] Younger males with Barth syndrome have a characteristic facial gestalt that is most evident during infancy, characterized by a tall and broad forehead, round face, full cheeks[ncbi.nlm.nih.gov]

  • Optic Atrophy-Intellectual Disability Syndrome

    Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] storage disease type IV Andersen glycogenosis , see glycogen storage disease type IV Andersen syndrome , see Andersen-Tawil syndrome Andersen’s disease , see glycogen storage[mygenomics.com] 2 99% 1:32 Fanconi Anemia group C 1 99% 1:92 Gaucher disease 3 92% 1:13 Glycogen storage disease type 1A 2 93% 1:71 Mucolipidosis type IV 2 95% 1:81 Maple Syrup Urine disease[chginc.org]

  • Coats Plus Syndrome

    Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] storage disease Ia (GSD1A) G6PC Glycogen storage disease type 2B (GSD2B), formerly LAMP2 del GM1-gangliosidosis GLB1 del dup Golabi-Rosen syndrome GPC3 del, GPC4del dup Goldblatt[uniklinik-freiburg.de] The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy[tsbvi.edu]

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