Neonatal hypotonia and cardiomyopathy secondary to type?IV glycogenosis

Tang, Thomas T.; Segura, Annette D.; Chen, Yuan-Tsong; Ricci, Lucia; Franciosi, Ralph A.; Splaingard, Mark; Lubinsky, Mark

doi:10.1007/s004010050120

Cited by 20 publications

(44 citation statements)

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“…The clinical and pathologic findings of this infant have been reported (8). This patient represents the neonatal fatal neuromuscular form of the disease.…”

Section: Methodsmentioning

confidence: 84%

“…In addition to the hepatic form, a neuromuscular form of the disease has been reported. These patients may ( a ) present at birth with severe hypotonia, muscle atrophy, and neuronal involvement with death in the neonatal period (8)(9)(10)(11); ( b ) present in late childhood with myopathy or cardiopathy (12)(13)(14); or ( c ) present as adults with diffuse central and peripheral nervous system dysfunction accompanied by accumulation of polyglucosan bodies in the nervous system (so-called adult polyglucosan body disease) (15,16).…”

Section: Introductionmentioning

confidence: 99%

“…All current methods for determination of GBE activity are indirect and therefore not suitable for quantitative analysis of GBE residual activity, and they cannot differentiate the various forms of the disease (7,8,17). At the present time, it is difficult to predict the patient's prognosis after initial diagnosis.…”

Section: Introductionmentioning

confidence: 99%

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Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Bao¹,

Kishnani²,

Wu³

et al. 1996

J. Clin. Invest.

155

110

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Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from deficient glycogen-branching enzyme (GBE) activity. The classic and most common form is progressive liver cirrhosis and failure leading to either liver transplantation or death by 5 yr of age. However, the liver disease is not always progressive. In addition, a neuromuscular type of the disease has been reported. The molecular basis of GSD-IV is not known, nor is there a known reason for the clinical variability. We studied the GBE gene in patients with various presentations of GSD-IV. Three point mutations in the GBE gene were found in two patients with the classical presentation: R515C, F257L, and R524X. Transient expression experiments showed that these mutations inactivated GBE activity. Two point mutations, L224P and Y329S, were detected in two separate alleles of a patient with the nonprogressive hepatic form. The L224P resulted in complete loss of GBE activity, whereas the Y329S resulted in loss of ‫ف‬ 50% of GBE activity. The Y329S allele was also detected in another patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients with the more severe forms of GSD-IV. A 210-bp deletion from nucleotide 873 to 1082 of the GBE cDNA was detected in a patient with the fatal neonatal neuromuscular presentation. This deletion, representing the loss of one full exon, was caused by a 3 Ј acceptor splicing site mutation ( ag to aa ). The deletion abolished GBE activity. Our studies indicate that the three different forms of GSD-IV were caused by mutations in the same GBE gene. The data also suggest that the significant retention of GBE activity in the Y329S allele may be a reason for the mild disease.

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“…The clinical and pathologic findings of this infant have been reported (8). This patient represents the neonatal fatal neuromuscular form of the disease.…”

Section: Methodsmentioning

confidence: 84%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Bao¹,

Kishnani²,

Wu³

et al. 1996

J. Clin. Invest.

155

110

View full text Add to dashboard Cite

show abstract

“…Arthrogryposis is one of the characteristic findings of the congenital neuromuscular form of GSD4, which is mostly seen with hydrops fetalis and perinatal death. There are also juvenile and adult neuromuscular forms that are dominated by myopathy, and the classic clinical manifestation of liver cirrhosis generally is not present in these neuromuscular forms (59)(60)(61). The diagnosis of GSD4 can be confirmed by the determination of the branching enzyme activity in affected tissues.…”

Section: L I N I C a L M E D I C I N Ementioning

confidence: 99%

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Bayram

Karaca

Akdemir

et al. 2016

Journal of Clinical Investigation

111

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“…This is one of the hallmark of glycogen storage disorder type IV, resulting from the accumulation of the improperly branching glycogen in neuronal and skeletal muscle tissues. 9,11 Seventy-six percent of cases, including our case, required immediate intubation and mechanical ventilation, a direct result of muscle dysfunction and poor respiratory effort. In addition to respiratory findings, cardiac dysfunction, likely due to the accumulation of abnormal glycogen in the myocardial tissues was seen (Table 1).…”

Section: Patient Summarymentioning

confidence: 80%