Glycogen Storage Disease XII

Last update 08 May 2025

Basic Info

Synonyms

ALDOA DEFICIENCY, ALDOA Deficiency, ALDOLASE A DEFICIENCY

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Introduction

An extremely rare glycogen storage disease with characteristics of haemolytic anaemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without haemolytic anaemia has been reported.

Clinical Trials associated with Glycogen Storage Disease XII

NCT06795152

/ RecruitingNot ApplicableIIT

Rare Glycogen Storage Diseases Natural History Study

The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon disease.

Start Date23 Dec 2024

Sponsor / Collaborator

Duke University

100 Clinical Results associated with Glycogen Storage Disease XII

100 Translational Medicine associated with Glycogen Storage Disease XII

0 Patents (Medical) associated with Glycogen Storage Disease XII

Literatures (Medical) associated with Glycogen Storage Disease XII

01 Aug 2024·Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae

[Onset of Glycogen Storage Disease Type Ⅻ in Two Brothers in the Neonatal Period].

Article

Author: Sun, Yan-Bo ; Chen, Min ; Li, Cun-Yu

Glycogen storage diseases (GSDs) are a group of autosomal recessive disorders of glucose metabolism.GSDs are caused by congenital deficiency of enzymes in glycogen synthesis or decomposition,which results in glycogen accumulation in organs.According to the types of enzyme deficiency,GSDs can be classified into more than ten types,among which GSD Ⅻ is a super-rare type of GSD.Two brothers with a 5-year age difference presented severe neonatal asphyxia,myasthenia,myocardial damage,anemia,and mental retardation,being GSD Ⅻ homozygous cases with neonatal onset.The results of gene detection showed that nucleotide and amino acid alterations (c.619G>A,p.E207K) of the ALDOA gene existed in the two brothers,being homozygous,and the genotypes in the parents were heterozygous.This article summarized the clinical features,diagnosis,and treatment of GSD Ⅻ,providing reference for exploring the etiology and treatment of severe asphyxia,myasthenia,anemia,and multiple organ damage in neonates after birth.

01 Dec 2022·BMC Medical Genomics

Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA)

Article

Author: He, Sijia ; Chen, Hongbo ; Guo, Xia ; Gao, Ju

AbstractBackgroundAdenylate kinase (AK) is a monomolecular enzyme widely found in a variety of organisms. It mainly catalyses the reversible transfer of adenosine nucleotide phosphate groups and plays an important role in maintaining energy metabolism. AK deficiency is a rare genetic disorder that is related to haemolytic anaemia. Chronic haemolytic anaemia associated with AK deficiency is a rare condition, and only 14 unrelated families have been reported thus far. Moreover, only 11 mutations have been identified in the AK1 gene, with only 3 cases of psychomotor impairment.Case presentationThe patient was a 3-year-old boy with severe haemolytic anaemia and psychomotor retardation. A molecular study of the patient’s AK gene revealed 2 different mutations: a heterozygous missense mutation in exon 6 (c.413G > A) and a heterozygous frameshift mutation in exon 5 (c.223dupA). Molecular modelling analyses indicated that AK gene inactivation resulted in a lack of AK activity. The patient recovered after regular blood transfusion therapy.ConclusionsAK1 deficiency was diagnosed on the basis of low enzymatic activity and the identification of a mutation in the AK1 gene located on chromosome 9q. Here, we report the first case of moderate red cell AK1 deficiency associated with chronic nonspherocytic haemolytic anaemia (CNSHA) in China. The genetic mutations were confirmed by Sanger sequencing. The variants were classified as pathogenic by bioinformatics tools, such as ACMG/AMP guidelines, Mutation Taster, SIFT, MACP, REVEL and PolyPhen2.2. Based on our evidence and previous literature reports, we speculate that the site of the AK1 gene c.413G > A (p.Arg138His) mutation may be a high-frequency mutation site and the other mutation (c.223dupA) might be related to the neuropathogenicity caused by AK1 deficiency. NGS should be a part of newborn to early childhood screening to diagnose rare and poorly diagnosed genetic diseases as early as possible.

01 Dec 2022·Italian Journal of PediatricsQ4 · MEDICINE

A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report

Q4 · MEDICINE

ArticleOA

Author: Velmishi, Virtut ; Dionisi-Vici, Carlo ; Maiorana, Arianna ; Catassi, Carlo ; Pjetraj, Dorina ; Santoro, Lucia ; Campana, Carmen

AbstractBackgroundGlycogen storage disease type XII is a rare metabolic disease resulting from Aldolase A deficiency that causes muscle glycogen accumulation, with crisis of rhabdomyolysis and hemolytic anemia. In the very few cases described, rhabdomyolysis crises are caused by fever and/or exercise and can accompany acute hemolytic anemia. Although currently there is no therapy available for this disease, the guidelines for the management of other forms of glycogen storage diseases recommend a nutritional therapy in order to avoid hypoglycemia or prevent exercise-induced rhabdomyolysis.Case presentationIn this case report we describe a new phenotype of the disease in a 14-year-old boy, characterized by seizures and rhabdomyolysis. Beside an antiepileptic treatment, we propose a new therapeutic approach based on ketogenic diet in order to supply an energetic substrate for skeletal muscle and neurons.ConclusionsThe anti-epileptic therapy and the dietetic approach were well tolerated by the patient who showed good compliance. This led to a deceleration of the disease with no other acute episodes of seizures and rhabdomyolysis, without any side effects observed.

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