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Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients.
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Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency
TLDR
The results demonstrate that all patients exhibiting residual GALT activity of <1.5% of control showed a comparable pathological pattern of increased endogenous galactose release irrespective of the underlying genetic variations.
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Longitudinal Assessment of Intellectual Achievement in Patients With Classical Galactosemia
TLDR
The results confirm the presence of reduced cognitive ability in classical galactosemia and present evidence for an absence of substantial galactOSEmia-induced aggravation of this impairment with increasing age, at least in patients from 4 to 40 years of age.
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Significance of L-alloisoleucine in plasma for diagnosis of maple syrup urine disease.
TLDR
The present findings indicate that plasma L-alloisoleucine above the cutoff value of 5 micromol/L is the most specific and most sensitive diagnostic marker for all forms of MSUD.
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Formation of L-Alloisoleucine In Vivo : An L-[13C]Isoleucine Study in Man
TLDR
The results indicate that R-3-methyl-2-oxopentanoate is an immediate and inevitable byproduct of L-isoleucine transamination and further suggest that alloisoleucines is primarily formed via retransamination of 3- methyl- 2-oxopenanoate in vivo.
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Whole-Body l-Leucine Oxidation in Patients with Variant Form of Maple Syrup Urine Disease
TLDR
Residual whole-body l-leucine oxidation ranged from 19 to 86% (59 ± 24%) of control and were substantially higher than the residual branched-chain 2-oxo acid dehydrogenase complex activities in the patients’ fibroblasts (10–25% of control).
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Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia – and review of the literature
TLDR
There was no evidence for clinically or subclinically significant changes of metabolic control during pregnancy, delivery, or lactation, and a specific metabolic monitoring is apparently not required in pregnant galactosemic women, and breast feeding of the nongalactoseic offspring can be recommended.
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Transamination and Oxidative Decarboxylation Rates of Branched-Chain 2-Oxo Acids in Cultured Human Skin Fibroblasts
ABSTRACT. Transamination and oxidative decarboxylation of branched-chain L-amino acid derived 2-oxo acids in cultured human skin fibroblasts from normal subjects and from a patient with maple syrup…
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Analysis of concentration and (13)C enrichment of D-galactose in human plasma.
TLDR
The present findings establish that detection of D-galactose from endogenous sources is feasible in human plasma and show that erroneously high results may be obtained by enzymatic methods.
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Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine disease
TLDR
The results show that the renal excretion of free BCAA as well as of the acylated derivatives is negligible and the renalexcretion of BCOA, however, to some extent counteracts increases in BCAA concentrations and thus contributes to the lowering of total BCAA pools in MSUD.
View on Wiley
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