Cystathionine �-Synthase Deficiency: Observations on the Biochemical Lesion in a Vitamin B6 Non-Responsive Patient

2015 ◽  
pp. 135-139
Author(s):  
Roger Griffiths
Keyword(s):  
Vitamin B6 ◽  
Biochemical Lesion

VITAMIN B6-DEPENDENCY AND INFANTILE CONVULSIONS

PEDIATRICS ◽  
1960 ◽  
Vol 26 (1) ◽  
pp. 62-74
Author(s):  
Charles R. Scriver
Keyword(s):  
Urinary Excretion ◽  
Vitamin B6 ◽  
Inborn Error ◽  
Convulsive Disorder ◽  
Infancy And Childhood ◽  
Biochemical Lesion ◽  
Characteristic Features ◽  
Probable Nature ◽  
The Brain ◽  
Diagnostic Trial

Another patient with the rare convulsive disorder termed "vitamin B6 (or pyridoxine) dependency" is presented. The case of a deceased sibling, suspected of having had the same disorder, is also presented. The characteristic features of the syndrome, as illustrated in these patients, are discussed. The unusual daily requirement for 10 or 11 mg of pyridoxine supplementation has persisted during the first 20 months of the surviving child's life. The response to pyridoxine is specific and impressive, suggesting a biochemical lesion underlying the convulsive disorder. The probable nature of this biochemical disorder, the significance of a peculiar pattern of urinary excretion of vitamin B6 and related products, and the sequence of vitamin B6 dependent enzyme involvement, are discussed; the disease may be an inborn error of metabolism involving an enzyme of the brain. Nothing can be lost, and perhaps much will be gained, if a diagnostic trial with pyridoxine therapy produces impressive improvement in any "idiopathic" convulsive disorder of infancy and childhood.

Membrane-associated microtubular areays induced in proximal myelinated processes of dorsal root ganglia by large doses of vitamin B6

1986 ◽  
Vol 44 ◽  
pp. 368-369
Author(s):  
V.J. Montpetit ◽  
S. Dancea ◽  
L. Tryphonas ◽  
D.F. Clapin
Keyword(s):  
Animal Model ◽  
Endoplasmic Reticulum ◽  
Dorsal Root Ganglia ◽  
Rough Endoplasmic Reticulum ◽  
Dorsal Root ◽  
Vitamin B6 ◽  
Morphological Changes ◽  
Model System ◽  
Sensory Nerves ◽  
Peripheral Sensory

Very large doses of pyridoxine (vitamin B6) are neurotoxic in humans, selectively affecting the peripheral sensory nerves. We have undertaken a study of the morphological and biochemical aspects of pyridoxine neurotoxicity in an animal model system. Early morphological changes in dorsal root ganglia (DRG) associated with pyridoxine megadoses include proliferation of neurofilaments, ribosomes, rough endoplasmic reticulum, and Golgi complexes. We present in this report evidence of the formation of unique aggregates of microtubules and membranes in the proximal processes of DRG which are induced by high levels of pyridoxine.

The Weight Loss Effects of Branched Chain Amino Acids and Vitamin B6: A Randomized Controlled Trial on Obese and Overweight Women

2018 ◽  
Vol 88 (1-2) ◽  
pp. 80-89 ◽  
Author(s):  
Zahra Shakibay Novin ◽  
Saeed Ghavamzadeh ◽  
Alireza Mehdizadeh
Keyword(s):  
Amino Acids ◽  
Weight Loss ◽  
Body Composition ◽  
Vitamin B6 ◽  
Controlled Trial ◽  
Density Lipoprotein ◽  
Branched Chain Amino Acids ◽  
Model Assessment ◽  
Waist To Hip Ratio ◽  
Branched Chain

Abstract. Branched chain amino acids (BCAA), with vitamin B6 have been reported to improve fat metabolism and muscle synthesis. We hypothesized that supplementation with BCAA and vitamin B6 would result in more weight loss and improve body composition and blood markers related to cardiovascular diseases. Our aim was to determine whether the mentioned supplementation would affect weight loss, body composition, and cardiovascular risk factors during weight loss intervention. To this end, we performed a placebo-controlled randomized clinical trial in 42 overweight and obese women (BMI = 25–34.9 kg/m2). Taking a four-week moderate deficit calorie diet (–500 kcal/day), participants were randomized to receive BCAA (6 g/day) with vitamin B6 (40 mg/day) or placebo. Body composition variables measured with the use of bioelectrical impedance analysis, homeostatic model assessment, and plasma insulin, Low density lipoprotein, High density lipoprotein, Total Cholesterol, Triglyceride, and fasting blood sugar were measured. The result indicated that, weight loss was not significantly affected by BCAA and vitamin B6 supplementation (–2.43 ± 1.02 kg) or placebo (–1.64 ± 1.48 kg). However, significant time × treatment interactions in waist to hip ratio (P = 0.005), left leg lean (P = 0.004) and right leg lean (P = 0.023) were observed. Overall, supplementation with BCAA and vitamin B6 could preserve legs lean and also attenuated waist to hip ratio.

Ginger, Vitamin B6 Ease Nausea in Pregnancy

2007 ◽  
Vol 37 (23) ◽  
pp. 30
Author(s):  
SHERRY BOSCHERT
Keyword(s):  
Vitamin B6 ◽  
In Pregnancy

Diagnostik und Therapie der Homocystinurie

2009 ◽  
Vol 09 (05) ◽  
pp. 289-293
Author(s):  
B. Reulecke ◽  
J. Denecke
Keyword(s):  
Vitamin B12 ◽  
Vitamin B6 ◽  
Sich Eine ◽  
Diagnostik Und Therapie

ZusammenfassungDie Homocystinurie ist eine seltene angeborene Erkrankung des Methioninstoffwechsels, die mit einer pathologischen Erhöhung der nicht proteinogenen Aminosäure Homocystein und der Ausscheidung ihres Disulfids Homocystin über den Urin einhergeht. Mehrere biochemische und genetische Defekte können zu einer deutlichen Homocysteinerhö-hung führen, darunter Störungen des Vita-min-B6-, Folsäure- und Vitamin-B12-Stoffwechsels, sodass der Terminus Homocystinurie eine Erkrankungsgruppe zusammenfasst. Die häufigste Ursache der Homocystinurie, auch klassische Homocystinurie oder Homo-cystinurie Typ I genannt, stellt die hereditäre Cystathionin-β-Synthase-Defizienz dar, die mit einer Erhöhung von Homocystein und Methionin im Blut einhergeht. Die Diagnose wird durch Bestimmung von Homocystein im Plasma gestellt und kann biochemisch und genetisch gesichert werden. Unbehandelt zeigen sich eine erhebliche Morbidität und Mortalität, die durch Ausschöpfung der therapeutischen Optionen, bestehend aus Vitamin B6, Folsäure, Vitamin B12, Betain und einer Proteinrestriktion mit Aminosäuresupplementie-rung, erheblich reduziert werden können.

P 518. Vitamin B6-Dependent West’s Syndrome: An Unexplained Case

2018 ◽  
Author(s):  
Martin Hildebrandt ◽  
Kai-Nils Pargac
Keyword(s):  
Vitamin B6
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