Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes

Alvarado, Luis Javier Flores; Gasca-Centeno, Estela; Grier, Robert E.

doi:10.1016/s0022-3476(88)80020-9

Cited by 10 publications

(1 citation statement)

References 7 publications

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“…In erythrocytes from these patients, 13 (1990) however, the glycogen content and the phosphorylase b kinase activity were completely normal. Hepatic phosphorylase b kinase deficiency with a normal enzyme activity in leukocytes has been also described (Alvarado et al, 1988), therefore the use of liver biopsy is unavoidable in special situations. Likewise, diagnosis of phosphoryIase b kinase deficiency in heart (Mitzuta et al, 1984;Servidei et al, 1988) can only be performed at present using cardiac muscle biopsy.…”

Section: Diagnosis Of Various Glycogenosesmentioning

confidence: 99%

Diagnosis of glycogen storage disease

Shin

1990

J of Inher Metab Disea

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Glycogen storage diseases are associated with more than 15 different enzyme deficiencies and can be clinically divided mainly into two groups, those that affect primarily the liver and those that affect principally the muscle. In this report each glycogenosis has been clinically and biochemically documented and possibilities for an accurate and prompt diagnosis of the various types have been summarized. Most of the patients suffering from type II, type III, type IV and type VIa can easily be diagnosed by analysis of peripheral blood cells without the need for tissue biopsies. First trimester diagnosis using chorionic villi is feasible for severe forms of the glycogenoses, type IIa, type IIIa and type IV.

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Section: Diagnosis Of Various Glycogenosesmentioning

confidence: 99%

Diagnosis of glycogen storage disease

Shin

1990

J of Inher Metab Disea

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Adult phosphorylase b kinase deficiency

Clemens

Yamamoto

Engel

1990

Annals of Neurology

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Phosphorylase b kinase deficiency affecting muscle has been observed infrequently in children with weakness and hepatomegaly, and in 2 adults with cramps on exertion. We observed 2 additional adults with phosphorylase b kinase deficiency: Patient 1, aged 58, had progressive, predominantly distal weakness since age 46 but no cramps on exertion; Patient 2, aged 26, had cramps on exertion since age 6 but no weakness. Lactate production on ischemic exercise was impaired only in Patient 1. The serum creatine kinase level was elevated in both. Muscle specimens showed focal glycogen excess in both, and a necrotizing myopathy and mild denervation atrophy in Patient 1. Muscle phosphorylase b kinase activity was 0.5% and 8.9% of the lowest control value in Patients 1 and 2, respectively; erythrocyte phosphorylase b kinase activity was normal in both; liver phosphorylase b kinase activity, measured in Patient 1, was also normal. Other glycolytic enzymes in muscle were preserved in both.

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Diagnosis of Glycogen Storage Disease

Shin¹

1990

Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria

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Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes

Cited by 10 publications

References 7 publications

Diagnosis of glycogen storage disease

Diagnosis of glycogen storage disease

Adult phosphorylase b kinase deficiency

Diagnosis of Glycogen Storage Disease

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