Hereditary deficiency of lactate dehydrogenase M-subunit

Kaburagi, Takashi; Sudo, Kayoko; Izumi, Tatsuro; Kanda, Shoichiro; Nishio, Hisahide; Nishimura, Yoshiro; Kunio, Oyama

doi:10.1016/0009-8981(80)90013-3

Cited by 119 publications

(13 citation statements)

References 9 publications

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“…Expression of this gene was upregulated by SNEB, and increased mRNA levels have similarly been observed in fasting mice (92). In addition, LDHA/B genes are involved in the carbohydrate metabolic process, and it has been documented that liver damage results in elevated expression of LDH (40, 48), possibly indicating a clinical sign of SNEB in cows. Microarray results indicated that FABP1 gene expression was reduced in SNEB cows.…”

Section: Discussionmentioning

confidence: 99%

Negative energy balance and hepatic gene expression patterns in high-yielding dairy cows during the early postpartum period: a global approach

McCarthy

Waters

Kenny

et al. 2010

Physiological Genomics

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In high-yielding dairy cows the liver undergoes extensive physiological and biochemical changes during the early postpartum period in an effort to re-establish metabolic homeostasis and to counteract the adverse effects of negative energy balance (NEB). These adaptations are likely to be mediated by significant alterations in hepatic gene expression. To gain new insights into these events an energy balance model was created using differential feeding and milking regimes to produce two groups of cows with either a mild (MNEB) or severe NEB (SNEB) status. Cows were slaughtered and liver tissues collected on days 6–7 of the first follicular wave postpartum. Using an Affymetrix 23k oligonucleotide bovine array to determine global gene expression in hepatic tissue of these cows, we found a total of 416 genes (189 up- and 227 downregulated) to be altered by SNEB. Network analysis using Ingenuity Pathway Analysis revealed that SNEB was associated with widespread changes in gene expression classified into 36 gene networks including those associated with lipid metabolism, connective tissue development and function, cell signaling, cell cycle, and metabolic diseases, the three most significant of which are discussed in detail. SNEB cows displayed reduced expression of transcription activators and signal transducers that regulate the expression of genes and gene networks associated with cell signaling and tissue repair. These alterations are linked with increased expression of abnormal cell cycle and cellular proliferation associated pathways. This study provides new information and insights on the effect of SNEB on gene expression in high-yielding Holstein Friesian dairy cows in the early postpartum period.

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Section: Discussionmentioning

confidence: 99%

Negative energy balance and hepatic gene expression patterns in high-yielding dairy cows during the early postpartum period: a global approach

McCarthy

Waters

Kenny

et al. 2010

Physiological Genomics

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“…A decreased or inadequate rise in lactate with an adequate rise in ammonia indicates a disruption in glycogen metabolism to pyruvate, which is the typical defect in glycogen storage disease. An elevation in pyruvate with inadequate rise in lactate level can help distinguish lactate dehydrogenase deficiency 24 .…”

Section: Testing In Patients With Rhabdomyolysismentioning

confidence: 99%

“…The first cases were described in Japan 24, 103 , but the condition has also been described in Caucasians 104, 105 . The condition is characterized by onset of muscle pain, stiffness, and cramping in the setting of strenuous activity; one child had first onset of symptoms during a 100-meter dash at age 9 years 106 .…”

Section: Genetic Causes Of Rhabdomyolysismentioning

confidence: 99%

“…Resting CK levels are usually elevated 24, 104, 106, 107 . Following exercise, there is a large increase in CK, but a smaller than expected increase in serum LDH 106, 107 ; this biochemical discrepancy is a unique feature of muscle LDH deficiency.…”

Section: Genetic Causes Of Rhabdomyolysismentioning

confidence: 99%

“…Following exercise, there is a large increase in CK, but a smaller than expected increase in serum LDH 106, 107 ; this biochemical discrepancy is a unique feature of muscle LDH deficiency. The FET shows an absent or inadequate lactate response along with an exaggerated increase in pyruvate levels 24 . Muscle biopsy pathology is infrequently described, but nonspecific myopathic changes have been described 104 .…”

Section: Genetic Causes Of Rhabdomyolysismentioning

confidence: 99%

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Diagnostic evaluation of rhabdomyolysis

2015

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Rhabdomyolysis is characterized by severe acute muscle injury resulting in muscle pain, weakness, and/or swelling with release of myofiber contents into the bloodstream. Symptoms develop over hours to days following an inciting factor and may be associated with dark pigmentation of the urine. Serum creatine kinase and urine myoglobin levels are markedly elevated. The clinical examination, history, laboratory studies, muscle biopsy, and genetic testing are useful tools for diagnosis of rhabdomyolysis, and they can help differentiate acquired from inherited causes of rhabdomyolysis. Acquired causes include substance abuse, medication or toxic exposures, electrolyte abnormalities, endocrine disturbance, and autoimmune myopathies. Inherited predisposition to rhabdomyolysis can occur with disorders of glycogen metabolism, fatty acid beta-oxidation, and mitochondrial oxidative phosphorylation. Less common inherited causes of rhabdomyolysis include structural myopathies, channelopathies, and sickle cell disease. This review focuses on the differentiation of acquired and inherited causes of rhabdomyolysis and proposes a practical diagnostic algorithm.

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Erythematosquamous Skin Lesions in Hereditary Lactate Dehydrogenase M-Subunit Deficiency

Yoshikuni¹,

Tagami²,

Yamada³

et al. 1986

Arch Dermatol

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Peculiar erythematosquamous lesions were observed in two adult patients in Japan with hereditary lactate dehydrogenase M-subunit deficiency. Although these patients showed excessive fatigue and myoglobulinuria after extended exercise, they were usually asymptomatic. However, nonpruritic follicular papules or erythematous patches with scaly edges were present on the extensor surfaces of the extremities of these patients since childhood, showing some improvement after puberty. There were also erythematous patches on the weight-bearing areas of their soles. These patches showed exacerbation and a tendency toward peripheral spreading in summer. These skin lesions provide an important clue in the detection of this genetic enzyme deficiency.

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Hereditary deficiency of lactate dehydrogenase M-subunit

Cited by 119 publications

References 9 publications

Negative energy balance and hepatic gene expression patterns in high-yielding dairy cows during the early postpartum period: a global approach

Negative energy balance and hepatic gene expression patterns in high-yielding dairy cows during the early postpartum period: a global approach

Diagnostic evaluation of rhabdomyolysis

Erythematosquamous Skin Lesions in Hereditary Lactate Dehydrogenase M-Subunit Deficiency

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