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Glycogen storage disease due to liver phosphorylase kinase deficiency

MedGen UID:
453209
•Concept ID:
C2012260
•
Disease or Syndrome
Synonym: Liver Phosphorylase Kinase Deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
Autosomal recessive inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0020693
Orphanet: ORPHA264580

Definition

Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlycogen storage disease due to liver phosphorylase kinase deficiency

Professional guidelines

PubMed

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS; ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX
Genet Med 2019 Apr;21(4):772-789. Epub 2019 Jan 19 doi: 10.1038/s41436-018-0364-2. PMID: 30659246
Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys.
Garibaldi LR, Borrone C, de Martini I, Battistini E
Helv Paediatr Acta 1978 Nov;33(4-5):435-41. PMID: 280544

Recent clinical studies

Etiology

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS; ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX
Genet Med 2019 Apr;21(4):772-789. Epub 2019 Jan 19 doi: 10.1038/s41436-018-0364-2. PMID: 30659246
Nutritional therapy for glycogen storage diseases.
Heller S, Worona L, Consuelo A
J Pediatr Gastroenterol Nutr 2008 Aug;47 Suppl 1:S15-21. doi: 10.1097/MPG.0b013e3181818ea5. PMID: 18667910
Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy.
Wolfsdorf JI, Holm IA, Weinstein DA
Endocrinol Metab Clin North Am 1999 Dec;28(4):801-23. doi: 10.1016/s0889-8529(05)70103-1. PMID: 10609121
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.
Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW
Hum Mol Genet 1998 Jan;7(1):149-54. doi: 10.1093/hmg/7.1.149. PMID: 9384616
Nutrition therapy for hepatic glycogen storage diseases.
Goldberg T, Slonim AE
J Am Diet Assoc 1993 Dec;93(12):1423-30. doi: 10.1016/0002-8223(93)92246-t. PMID: 8245377

Diagnosis

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.
İnci A, Kılıç Yıldırım G, Cengiz Ergin FB, Sarı S, Eğritaş Gürkan Ö, Okur İ, Biberoğlu G, Bükülmez A, Ezgü FS, Dalgıç B, Tümer L
J Pediatr Endocrinol Metab 2022 Apr 26;35(4):451-462. Epub 2022 Jan 17 doi: 10.1515/jpem-2021-0278. PMID: 35038814
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.
Fernandes SA, Cooper GE, Gibson RA, Kishnani PS
Mol Genet Metab 2020 Nov;131(3):299-305. Epub 2020 Oct 10 doi: 10.1016/j.ymgme.2020.10.004. PMID: 33317799Free PMC Article
Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.
Kim TH, Kim KY, Kim MJ, Seong MW, Park SS, Moon JS, Ko JS
Eur J Med Genet 2020 Jun;63(6):103921. Epub 2020 Mar 31 doi: 10.1016/j.ejmg.2020.103921. PMID: 32244026
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS; ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX
Genet Med 2019 Apr;21(4):772-789. Epub 2019 Jan 19 doi: 10.1038/s41436-018-0364-2. PMID: 30659246
Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy.
Wolfsdorf JI, Holm IA, Weinstein DA
Endocrinol Metab Clin North Am 1999 Dec;28(4):801-23. doi: 10.1016/s0889-8529(05)70103-1. PMID: 10609121

Therapy

Nutritional therapy for glycogen storage diseases.
Heller S, Worona L, Consuelo A
J Pediatr Gastroenterol Nutr 2008 Aug;47 Suppl 1:S15-21. doi: 10.1097/MPG.0b013e3181818ea5. PMID: 18667910
Uncooked cornstarch treatment for hepatic phosphorylase kinase deficiency.
Nakai A, Shigematsu Y, Takano T, Kikawa Y, Sudo M
Eur J Pediatr 1994 Aug;153(8):581-3. doi: 10.1007/BF02190663. PMID: 7957405
Nutrition therapy for hepatic glycogen storage diseases.
Goldberg T, Slonim AE
J Am Diet Assoc 1993 Dec;93(12):1423-30. doi: 10.1016/0002-8223(93)92246-t. PMID: 8245377
Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys.
Garibaldi LR, Borrone C, de Martini I, Battistini E
Helv Paediatr Acta 1978 Nov;33(4-5):435-41. PMID: 280544

Prognosis

Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
Waheed N, Saeed A, Ijaz S, Fayyaz Z, Anjum MN, Zahoor Y, Cheema HA
J Pediatr Endocrinol Metab 2020 Sep 25;33(9):1117-1123. doi: 10.1515/jpem-2019-0603. PMID: 32697758
Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa.
Zhang J, Yuan Y, Ma M, Liu Y, Zhang W, Yao F, Qiu Z
Gene 2017 Sep 5;627:149-156. Epub 2017 Jun 13 doi: 10.1016/j.gene.2017.06.026. PMID: 28627441
Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy.
Wolfsdorf JI, Holm IA, Weinstein DA
Endocrinol Metab Clin North Am 1999 Dec;28(4):801-23. doi: 10.1016/s0889-8529(05)70103-1. PMID: 10609121
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.
Willems PJ, Gerver WJ, Berger R, Fernandes J
Eur J Pediatr 1990 Jan;149(4):268-71. doi: 10.1007/BF02106291. PMID: 2303074
Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease.
Eishi Y, Takemura T, Sone R, Yamamura H, Narisawa K, Ichinohasama R, Tanaka M, Hatakeyama S
Hum Pathol 1985 Feb;16(2):193-7. doi: 10.1016/s0046-8177(85)80071-x. PMID: 3918928

Clinical prediction guides

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.
İnci A, Kılıç Yıldırım G, Cengiz Ergin FB, Sarı S, Eğritaş Gürkan Ö, Okur İ, Biberoğlu G, Bükülmez A, Ezgü FS, Dalgıç B, Tümer L
J Pediatr Endocrinol Metab 2022 Apr 26;35(4):451-462. Epub 2022 Jan 17 doi: 10.1515/jpem-2021-0278. PMID: 35038814
Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
Waheed N, Saeed A, Ijaz S, Fayyaz Z, Anjum MN, Zahoor Y, Cheema HA
J Pediatr Endocrinol Metab 2020 Sep 25;33(9):1117-1123. doi: 10.1515/jpem-2019-0603. PMID: 32697758
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.
Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J, Raiman J, Schulze A, Siriwardena K, Mercimek-Mahmutoglu S
Mol Genet Metab 2014 Nov;113(3):171-6. Epub 2014 Sep 21 doi: 10.1016/j.ymgme.2014.09.005. PMID: 25266922
X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation.
Cho SY, Lam CW, Tong SF, Siu WK
Clin Chim Acta 2013 Nov 15;426:75-8. Epub 2013 Sep 18 doi: 10.1016/j.cca.2013.08.026. PMID: 24055370
Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency.
Lederer B, Van Hoof F, Van den Berghe G, Hers H
Biochem J 1975 Apr;147(1):23-35. doi: 10.1042/bj1470023. PMID: 168880Free PMC Article

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