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]

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]

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]

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]

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]

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]