Low ratio of S-adenosylmethionine to S-adenosylhomocysteine is associated with vitamin deficiency in Brazilian pregnant women and newborns

Guerra-Shinohara, Elvira María; Morita, O; Peres, Sabrina; Pagliusi, Regina Alexandre; Neto, Luiz F Sampaio; D’Almeida, Vânia; Irazusta, Silvia Pierre; Allen, Robert H.; Stabler, Sally P.

doi:10.1093/ajcn/80.5.1312

Cited by 62 publications

(51 citation statements)

References 38 publications

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“…The results were compared with the 95% confidence intervals reported previously (Guerra-Shinohara et al 2004). The methionine concentration was 35 and 35.5 μmol/L, at most very slightly elevated (reference 95% CI: 25.4−27.3 μmol/L).…”

Section: Case Report: Pretreatment Period In Patient 2 the Younger Bmentioning

confidence: 84%

S‐Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy

Barić

Ćuk

Fumić

et al. 2005

J of Inher Metab Disea

114

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SummaryS-Adenosylhomocysteine (AdoHcy) hydrolase deficiency has been proven in a human only once, in a recently described Croatian boy. Here we report the clinical course and biochemical abnormalities of the younger brother of this proband. This younger brother has the same two mutations in the gene encoding AdoHcy hydrolase, and has been monitored since birth. We report, as well, outcomes during therapy for both patients. The information obtained suggests that the disease starts in utero and is characterized primarily by neuromuscular symptomatology (hypotonia, sluggishness, psychomotor delay, absent tendon reflexes, delayed myelination). The laboratory abnormalities are markedly increased creatine kinase and elevated aminotransferases, as well as specific amino acid aberrations that pinpoint the aetiology. The latter include, most importantly, markedly elevated plasma AdoHcy. Plasma S-adenosylmethionine (AdoMet) is also elevated, as is methionine (although the hypermethioninaemia may be absent or nonsignificant in the first weeks of life). The disease seems to be at least to some extent treatable, as shown by improved myelination and psychomotor development during dietary methionine restriction and supplementation with creatine and phosphatidylcholine.*Correspondence: Department of Pediatrics, University Hospital Center, Kišpatićeva 12, Rebro, 10000 Zagreb, Croatia. E-mail: ibaric@kbc-zagreb.hr. NIH Public Access NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author ManuscriptS-Adenosylhomocysteine (AdoHcy) hydrolase (adenosylhomocysteinase, EC 3.3.1.1) is the enzyme that catalyses hydrolysis of AdoHcy to adenosine and homocysteine (De La Haba and Cantoni 1959). Its deficiency (McKusick 180960) had been proven in a human only once, in a Croatian boy we reported recently (Barić et al 2004). The index patient presented with myopathy, characterized by hypotonia and delayed psychomotor development from birth, abnormally slow brain myelination (noted in MRI studies of the brain at 12.7 months) and mild hepatitis-like findings. The main biochemical abnormalities were marked increases of creatine kinase and aminotransferases, prolonged prothrombin time, low albumin, and specific amino acid aberrations indicative of the aetiology: hypermethioninaemia with almost normal total plasma homocysteine and very elevated plasma AdoHcy (up to 150 × normal) and SAdenosylmethionine (AdoMet) (up to 30 times normal). Activity of AdoHcy hydrolase was severely diminished: about 3% of control in liver and 9−15% of the mean controls in fibroblasts and red blood cells. The specific metabolic defect had been identified and the patient started on therapy by age 12.8 months. Here we report a second patient (patient 2), a brother of the proband. Patient 2 has been monitored since birth and was started on therapy at age 3.4 months, by which time the diagnosis of AdoHcy hydrolase deficiency had been clearly established. We report, also, outcomes during therapy in both patients. METHODS Metabolite assaysAmino acids were measured by i...

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Section: Case Report: Pretreatment Period In Patient 2 the Younger Bmentioning

confidence: 84%

S‐Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy

Barić

Ćuk

Fumić

et al. 2005

J of Inher Metab Disea

114

View full text Add to dashboard Cite

show abstract

“…Some studies have found that pregnancy may result in impaired methylation and lower levels of SAMe [73], suggesting a potential benefit from SAMe administration in pregnant women. SAMe supplementation in pregnant women with intrahepatic cholestasis has been associated with beneficial effects [74].…”

Section: Recommendations and Special Considerations For Women Who Arementioning

confidence: 99%

Update and Critique of Natural Remedies as Antidepressant Treatments

Mischoulon

2007

Psychiatric Clinics of North America

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“…Vários estudos mostraram correlação inversa entre as concentrações de folato (sérico e eritrocitário) e/ou cobalamina e os valores de tHcy; e entre as concentrações séricas de cobalamina e MMA em gestantes GUERRA-SHINOHARA et al, 2004;MCMULLIN et al ,2001 (ALLEN et al, 1993c;DONNELY, 2003).…”

Section: Marcadores Da Deficiência De Vitaminasunclassified

“…A S-adenosilmetionina (SAM) e a S-adenosilhomocisteína (SAH), bem como a razão SAM/SAH também são consideradas marcadores de deficiência de folato e/ou cobalamina (ALLEN et al, 1993c;GUERRA-SHINOHARA et al, 2004;SAVAGE et al, 1994). Pacientes brasileiros com deficiência grave de cobalamina apresentaram concentrações elevadas de SAH e menor razão SAM/SAH, que foram corrigidos pela administração de cianocobalamina via intramuscular (GUERRA-SHINOHARA et al 2007).…”

Section: Marcadores Da Deficiência De Vitaminasunclassified

“…Um dos tubos contendo K 3 EDTA foi usado para realização do hemograma e para determinação do folato eritrocitário, enquanto o outro foi mantido fechado e As concentrações MMA, tHcy e a razão SAM/SAH são consideradas marcadores de deficiência de folato e/ou cobalamina (ALLEN et al, 1993c;SAVAGE et al, 1994;GUERRA-SHINOHARA et al, 2004). Na insuficiência renal podem ser encontradas concentrações elevadas de tHcy e MMA e menores razões SAM/SAH (LOEHRER et al, 1998).…”

Section: Amostras Biológicasunclassified

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Efeito das concentrações das vitaminas (séricas e da dieta) e do polimorfismo MTHFR C677T na taxa de metilação global do DNA durante o período gestacional

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Low ratio of S-adenosylmethionine to S-adenosylhomocysteine is associated with vitamin deficiency in Brazilian pregnant women and newborns

Cited by 62 publications

References 38 publications

S‐Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy

S‐Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy

Update and Critique of Natural Remedies as Antidepressant Treatments

Efeito das concentrações das vitaminas (séricas e da dieta) e do polimorfismo MTHFR C677T na taxa de metilação global do DNA durante o período gestacional

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