Pre-symptomatic treatment of creatine biosynthesis defects.

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine metabolism comprising two autosomal recessive disorders that affect the biosynthesis of creatine--i.e. arginine:glycine amidinotransferase deficiency (AGAT; MIM 602360) and guanidinoacetate methyltransferase deficiency (GAMT; MIM 601240)--and an X-linked defect that affects the creatine transporter, SLC6A8 d...

Creatine metabolism and disease Primary creatine metabolism disorders- Cerebral Creatine Deficiency Syndromes Cerebral Creatine Deficiency Syndromes (CCDS) are a group of disorders consisting of defects in proteins involved in creatine biosynthesis, AGAT and GAMT, and in its transporter, SLC6A8

Reduced brain choline in homocystinuria due to remethylation defects.

OBJECTIVE To investigate whether secondary impairment of the transmethylation pathway is a mechanism underlying the neurologic involvement in homocystinuria due to remethylation defects. METHODS Twelve patients with neurologic disease due to remethylation defects were examined by brain magnetic resonance spectroscopic imaging ((1)H MRSI). Brain N-acetylaspartate, choline-containing compounds ...

Cardiovascular effects of acute hypercholesterolemia in rabbits. Reversal with lovastatin treatment.

Hypercholesterolemia was induced in New Zealand white rabbits by feeding them a 0.5% cholesterol-enriched rabbit chow for 2 wk. Half of the cholesterol-fed rabbits were given lovastatin, a potent inhibitor of hydroxymethylglutaryl-coenzyme A reductase (HMG-CoA reductase), the rate limiting enzyme in cholesterol biosynthesis, and the other half were given its vehicle (i.e., DMSO). At the end of ...

Dietary Creatine as a Possible Novel Treatment for Crohn’s Ileitis

Creatine, a commonly used dietary supplement, plays an important role in maintaining gut barrier function. Given that dysregulation of the intestinal epithelial barrier is a hallmark of inflammatory bowel disease, it is plausible that creatine supplementation may attenuate disease severity. We present a patient with Crohn's ileitis who responded to creatine supplementation with both symptomatic...