Symptoma

Aldolase A Deficiency

Characterised as a recessive disorder, symptomatic presentation requires the inheritance of aldolase A mutations from both parents. [en.wikipedia.org]

[…] aldolase A deficiency Glycogenosis type 12 Glycogenosis type XII Prevalence: Unknown Inheritance: Autosomal recessive Age of onset: Neonatal ICD-10: E74.0 OMIM: 611881 UMLS: C0272066 MeSH: - GARD: 600 MedDRA: - The documents contained in this web site are presented [orpha.net]

The sole aldolase present in red blood cells and skeletal muscle is the A isozyme. We report here the case of a girl of Sicilian descent with aldolase A deficiency. [ncbi.nlm.nih.gov]

  • Anemia

    Abstract Two cases of red cell aldolase deficiency associated with congenital nonspherocytic hemolytic anemia are reported. The proband is a fourteen‐month‐old Japanese boy. [doi.org]

    A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported. [orpha.net]

    Fructose-1,6-bisphosphate aldolase A (fructose-bisphosphate aldolase; EC 4.1.2.13) deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia. [ncbi.nlm.nih.gov]

  • Fever

    A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported. [orpha.net]

    To the Editor: In their Brief Report (April 25 issue), 1 Kreuder et al. report the aggravation of rhabdomyolysis by fever and suggest thermolability of the mutant enzyme as a possible cause for the increase. [doi.org]

    Deterioration with fever is likewise congruent. [en.wikipedia.org]

  • Weakness

    This is often recognized initially through signs of muscle weakness and exercise intolerance, suggesting rapid muscular fatigue and damage, likely directly related to ATP depletion. [en.wikipedia.org]

    Clinical manifestations included transfusion-dependent anemia until splenectomy at age 3 and increasing muscle weakness, with death at age 4 associated with rhabdomyolysis and hyperkalemia. [ncbi.nlm.nih.gov]

    […] or fatigue during 2nd decade Fatigue: Young adults Weakness: Older adults; Legs & Trunk; Running & Sports Muscle discomfort: Cramps May present with high CK but normal strength Weakness Symmetric Respiratory failure Presenting feature in 5% to 30%: Often [neuromuscular.wustl.edu]

    Neurologic examination at age 2, prompted by a seizure, revealed Gowers sign without other evidence of weakness. Cognitive function was normal. [doi.org]

  • Recurrent Infection

    This was correlated with recurrent infection in the Sicilian case.Focal disruption of vital energy metabolism has thus far prevented complete investigation of non-catalytic perturbation. [en.wikipedia.org]

    Aldolase A is reported to be the predominant or sole aldolase in leukocytes. 14 It is possible that the recurrent infections in the patient, in particular disseminated Pseudomonas, resulted from defective bacterial killing. [doi.org]

    infections Hyperinflammatory state IgA: Increased Memory B cells: Decreased Lymphadenopathy Laboratory Muscle NADH: Irregular internal architecture Normal glycogen: Depleted in 50% of muscle fibers Polyglucosan accumulation: Inclusions Incompletely digested [neuromuscular.wustl.edu]

  • Short Stature

    Reynolds, A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: Similarities to a report of aldolase a deficiency, American Journal of Medical Genetics, 28, 4, (965-970), (2005). [doi.org]

    stature Cerebral thrombosis Hypogonadotropic hypogonadism: Few patients Treatment: Dietary galactose supplementation Laboratory Liver enzymes: High (100%) Hypoglycemia Serum CK: 300 to 10,000 Transferins: Abnormal N-glycosylation; Abnormal monosialo- [neuromuscular.wustl.edu]

  • Suggestibility

    When compared with normal human aldolase A, the patient's enzyme from erythrocytes and from cultured lymphoblastoid cells was found to be highly thermolabile, suggesting that this mutation causes a functional defect of the enzyme. [ncbi.nlm.nih.gov]

    A complex pattern for this metabolite is suggested with discrepancy in findings. [en.wikipedia.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Addition of glycerol or some other polyalcohols during thermal treatment protected this altered enzyme (but not the normal enzyme) against denaturation and activity decrease. [ncbi.nlm.nih.gov]

[…] of type I muscle fibers Young age at baseline Albuterol (8 mg bid): May improve response to enzyme replacement treatment 34 Animal models: Acid maltase deficiency Japanese quails Lapland dog Australian cattle Debrancher deficiency (Glycogenosis type [neuromuscular.wustl.edu]

On the other hand, the late-onset variant of GSD IV (adult polyglucosan body disease APBD) is one of several polyglucosan disorders (including Lafora disease) due to different etiologies. [ncbi.nlm.nih.gov]

Lamp-2: Xq24 Phosphorylase (McArdle's), severe phenotype: 11q13 Triosephosphate isomerase: 12p13 Acid Maltase Deficiency (Glycogen storage disease 2 (GSD2); Pompe disease) Acid α-1,4-glucosidase (GAA) ; Chromosome 17q25.3; Recessive Nosology: LGMD 2V Epidemiology [neuromuscular.wustl.edu]

A common pathophysiologic feature of glycogenosis types III, V, and VII. New Engl J Med. 1987;317:75–80. [PubMed] [Google Scholar] 48. Agamanolis DP, Askari AD, DiMauro S, et al. [ncbi.nlm.nih.gov]

Early developmental reliance and constitutive function prevents severe mutation in successful embryos. Infrequent documentation thus prevents clear generalisation of symptoms and causes. However five cases have been well described. [en.wikipedia.org]

[…] out of exon 2 Splicing is "leaky"; Some functional enzyme is produced Common ( 70%) in adult onset weakness & later respiratory failure Uncommon in children Tyr455Phe: Juvenile onset Missense: Most other mutations Many allow precursor formation But prevent [neuromuscular.wustl.edu]

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