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First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

Wamelink MM, Ramos RJ, van den Elzen AP, Ruijter GJ, Bonte R, Diogo L, Garcia P, Neves N, Nota B, Haschemi A, Tavares de Almeida I, Salomons GS - J. Inherit. Metab. Dis. (2015)

Bottom Line: SHPK is an enzyme that phosphorylates sedoheptulose to sedoheptulose-7-phosphate, which is an important intermediate of the pentose phosphate pathway.It is questionable whether SHPK deficiency is a causal factor for the clinical phenotypes of our patients.This study illustrates the necessity of extensive functional and clinical workup for interpreting a novel variant, including nonsense variants.

View Article: PubMed Central - PubMed

Affiliation: Department of Clinical Chemistry, Neuroscience Campus Amsterdam, VU University Medical Center, De Boelelaan 1117, 1081HV, Amsterdam, The Netherlands, m.wamelink@vumc.nl.

ABSTRACT
We present the first two reported unrelated patients with an isolated sedoheptulokinase (SHPK) deficiency. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Both patients had elevated excretion of erythritol and sedoheptulose, and each had a homozygous nonsense mutation in SHPK. SHPK is an enzyme that phosphorylates sedoheptulose to sedoheptulose-7-phosphate, which is an important intermediate of the pentose phosphate pathway. It is questionable whether SHPK deficiency is a causal factor for the clinical phenotypes of our patients. This study illustrates the necessity of extensive functional and clinical workup for interpreting a novel variant, including nonsense variants.

No MeSH data available.


Related in: MedlinePlus

Sedoheptulokinase (SHPK) protein expression in untreated and cyclohexamide (CHX)-treated fibroblast homogenates from patient 1 and untreated control fibroblasts. Recombinant human SHPK was used to demonstrate specificity of the SHPK antibody
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Fig2: Sedoheptulokinase (SHPK) protein expression in untreated and cyclohexamide (CHX)-treated fibroblast homogenates from patient 1 and untreated control fibroblasts. Recombinant human SHPK was used to demonstrate specificity of the SHPK antibody

Mentions: We detected no mature SHPK protein in untreated or cyclohexamide-treated fibroblasts isolated from patient 1. In contrast, fibroblasts derived from a control individual showed a prominent SHPK protein content (Fig. 2).Fig. 2


First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

Wamelink MM, Ramos RJ, van den Elzen AP, Ruijter GJ, Bonte R, Diogo L, Garcia P, Neves N, Nota B, Haschemi A, Tavares de Almeida I, Salomons GS - J. Inherit. Metab. Dis. (2015)

Sedoheptulokinase (SHPK) protein expression in untreated and cyclohexamide (CHX)-treated fibroblast homogenates from patient 1 and untreated control fibroblasts. Recombinant human SHPK was used to demonstrate specificity of the SHPK antibody
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4551550&req=5

Fig2: Sedoheptulokinase (SHPK) protein expression in untreated and cyclohexamide (CHX)-treated fibroblast homogenates from patient 1 and untreated control fibroblasts. Recombinant human SHPK was used to demonstrate specificity of the SHPK antibody
Mentions: We detected no mature SHPK protein in untreated or cyclohexamide-treated fibroblasts isolated from patient 1. In contrast, fibroblasts derived from a control individual showed a prominent SHPK protein content (Fig. 2).Fig. 2

Bottom Line: SHPK is an enzyme that phosphorylates sedoheptulose to sedoheptulose-7-phosphate, which is an important intermediate of the pentose phosphate pathway.It is questionable whether SHPK deficiency is a causal factor for the clinical phenotypes of our patients.This study illustrates the necessity of extensive functional and clinical workup for interpreting a novel variant, including nonsense variants.

View Article: PubMed Central - PubMed

Affiliation: Department of Clinical Chemistry, Neuroscience Campus Amsterdam, VU University Medical Center, De Boelelaan 1117, 1081HV, Amsterdam, The Netherlands, m.wamelink@vumc.nl.

ABSTRACT
We present the first two reported unrelated patients with an isolated sedoheptulokinase (SHPK) deficiency. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Both patients had elevated excretion of erythritol and sedoheptulose, and each had a homozygous nonsense mutation in SHPK. SHPK is an enzyme that phosphorylates sedoheptulose to sedoheptulose-7-phosphate, which is an important intermediate of the pentose phosphate pathway. It is questionable whether SHPK deficiency is a causal factor for the clinical phenotypes of our patients. This study illustrates the necessity of extensive functional and clinical workup for interpreting a novel variant, including nonsense variants.

No MeSH data available.


Related in: MedlinePlus