Identification of 3α,7α,12α-trihydroxy-5β-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease

1985 ◽  
Vol 8 (1) ◽  
pp. 13-17 ◽  
Author(s):  
A. Poulos ◽  
M. J. Whiting
Keyword(s):  
Cholic Acid ◽  
Acid Synthesis ◽  
Refsum's Disease ◽  
Infantile Refsum's Disease

scholarly journals Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood

2018 ◽  
Vol 13 (1) ◽  
Author(s):  
Emmanuel Gonzales ◽  
Lorenza Matarazzo ◽  
Stéphanie Franchi-Abella ◽  
Alain Dabadie ◽  
Joseph Cohen ◽  
...  
Keyword(s):  
Bile Acid ◽  
Cholic Acid ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Favorable Outcome ◽  
Life Saving ◽  
Primary Bile Acid

scholarly journals Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene

2017 ◽  
Vol 9 (3) ◽  
Author(s):  
Grazia Bossi ◽  
Giuseppe Giordano ◽  
Gaetana Anna Rispoli ◽  
Giuseppe Maggiore ◽  
Mauro Naturale ◽  
...  
Keyword(s):  
Bile Acid ◽  
Replacement Therapy ◽  
Cholic Acid ◽  
Novel Mutation ◽  
Failure To Thrive ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Ionization Mass ◽  
Fast Atom Bombardment Ionization ◽  
Atypical Clinical Presentation

We report definitive diagnosis and effective treatment with oral cholic acid in one Italian male child affected by 3β- hydroxy-Δ5-C27-steroid dehydrogenase (3β- HSD) deficiency. He presented with failure to thrive, hepatomegaly and multiple cystic images in kidneys; no biochemical evidence of cholestasis. Large amounts of bile acid metabolites was detected in urine by fast atom bombardment ionization mass spectrometry (FAB-MS). <em>HSDH3B7</em> gene analysis identified one mutation in intron 4, at nucleotide 432, G&gt;A substitution that has never been reported before.The replacement therapy with oral cholic acid started early after the diagnosis and is still ongoing. Three years later hepatomegaly is no longer evident, liver function is normal and the child is growing regularly. In our experience, clinical features of 3β-HSD deficiency can be very poor and even cholestasis can lack at diagnosis. Early replacement therapy with cholic acid is safe and leads to clinical and biochemical control of the disease.

Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction

1986 ◽  
Vol 9 (2) ◽  
pp. 169-174 ◽  
Author(s):  
B. T. Poll-The ◽  
J. M. Saudubray ◽  
H. Ogier ◽  
R. B. H. Schutgens ◽  
R. J. A. Wanders ◽  
...  
Keyword(s):  
Refsum's Disease ◽  
Infantile Refsum's Disease
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