Genotype-phenotype correlation in adult-onset acid maltase deficiency

Genotype-phenotype correlation in adult-onset acid maltase deficiency.

We performed a clinical, biochemical, and genetic study in 16 patients from 11 families with adult-onset acid maltase deficiency. All patients were compound heterozygotes and carried the IVS1(-13T --> G) transversion on one allele; the second allele harbored either a deletion of a T at position 525 in exon 2 (7 probands, 64%) or a deletion of exon 18 (1 proband, 9%). Deterioration of handicap w...

Adult-onset acid maltase deficiency. Case report of an adult with severe respiratory difficulty.

Pompe's disease (acid maltase deficiency) classically affects infants and children, with a few sporadic cases occurring in adults. An adult patient initially have progressive muscular weakness, exertional dyspnea, diaphragmatic paralysis, and objective evidence of restrictive respiratory disease. Muscle biopsy established the diagnosis of acid maltase deficiency. The patient's brother had died ...

Systemic metabolic abnormalities in adult-onset acid maltase deficiency: beyond muscle glycogen accumulation.

IMPORTANCE The physiological relevance of acid maltase (acid α-glucosidase, an enzyme that degrades lysosomal glycogen) is well recognized in liver and muscle. In late (adult)-onset acid maltase deficiency (glycogen storage disease type II [GSD II]), glycogen accumulates inside muscular lysosomes in the context of reduced enzymatic activity present not only in muscle, but also throughout the or...

Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency.

PEARLS Adult-onset Pompe disease (acid maltase deficiency, glycogen storage disease type II) should be considered in the differential diagnosis in the adult patient presenting with slowly progressive selective lower extremity weakness, specifically of the hip flexors. Hip flexion weakness may be the only finding in the earliest stages of this disease. EMG findings of myotonic discharges occurri...

ADULT-TYPE HYPOLACTASIA: Genotype-phenotype correlation