Fracture of the femur, fish odour, and copper deficiency in a preterm infant.

Blumenthal, I; Lealman, G T; Franklyn, P P

doi:10.1136/adc.55.3.229

Cited by 49 publications

(14 citation statements)

References 7 publications

(1 reference statement)

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“…Six of these cases had been diagnosed by the age of 15 weeks [1,3,14], Therefore the ability to assess copper status in VLBW infants in early life is important.…”

Section: Discussionmentioning

confidence: 99%

Factors associated with variation in plasma copper levels in preterm infants of very low birth weight

1993

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At 2-weekly intervals from age 4-14 weeks, the possible effects on plasma copper concentration of gestation, multiple birth, fractional weight change from birth (W/BW) and, up to 10 weeks, average daily total copper intake from birth were explored in 43 preterm infants of very low birth weight. There was no significant association between the logarithm of the plasma copper concentration (ln Cu) and multiple birth at any time and no significant association between ln Cu and gestation was found from 4-12 weeks. From age 4-10 weeks, there was a significant negative correlation between ln Cu and W/BW and at 4, 6 and 10 weeks there was also a significant negative correlation between ln Cu and copper intake. W/BW and copper intake were correlated throughout. At 14 weeks, ln Cu correlated positively with gestation and negatively with W/BW but, at this age, gestation and W/BW were correlated. The maximum total variation (R2) in ln Cu explained by its regression on gestation, multiple birth, W/BW and/or copper intake combined was only about 31% (at 10 weeks). The potential for copper depletion may be greater in rapidly growing infants.

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“…Six of these cases had been diagnosed by the age of 15 weeks [1,3,14], Therefore the ability to assess copper status in VLBW infants in early life is important.…”

Section: Discussionmentioning

confidence: 99%

Factors associated with variation in plasma copper levels in preterm infants of very low birth weight

1993

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“…Unlike the cytochrome P450 family of enzymes, the FMO enzymes (other than FMO2) are not generally inducible by small molecules [25,26], although factors such as age [131,132], liver disease [54,133], menstruation [28], pyrexic states [28] and stress [28] may influence enzyme activity. An underlying genetic mutation of the FMO3 gene is a more likely cause of interindividual variation in enzyme activity [26,82].…”

Section: Factors Influencing Enzyme Activitymentioning

confidence: 98%

Trimethylamine: Metabolic, Pharmacokinetic and Safety Aspects

Bain¹,

Fornasini²,

Evans

2005

CDM

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Trimethylamine (TMA) is a volatile tertiary aliphatic amine that is derived from the diet either directly from the consumption of foods containing TMA, or by the intake of food containing precursors to TMA such as trimethylamine-N-oxide (TMNO), choline and L-carnitine. Following oral absorption in humans, TMA undergoes efficient N-oxidation to TMNO, a reaction catalyzed by the flavin-containing monooxygenase (FMO) isoform 3 enzyme. TMNO subsequently undergoes excretion in the urine, although, evidence also suggests that metabolic retro-reduction of TMNO can occur. Whilst the pharmacokinetics of TMA and TMNO has not been fully elucidated in humans, a number of studies provide information on the likely fate of dietary derived TMA. Trimethylaminuria is a condition that is characterized by a deficiency in FMO3 enzyme activity, resulting in the excretion of increased amounts of TMA in bodily fluids such as urine and sweat, and breath. A human FMO3 database has been established and currently twenty-eight variants of the FMO3 gene have been reported including twenty-four missense, three nonsense, and one gross deletion mutation. Whilst TMA and TMNO are generally regarded as non-toxic substances, they are of clinical interest because of their potential to form the carcinogen N-nitrosodimethylamine.

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“…Four patients had symptomatic fractures with little or no recognised trauma [13,21,25,36]. Nine further patients had fractures that were only recognised when radiology was carried out for other reasons.…”

Section: Skeletal Featuresmentioning

confidence: 99%

“…In one [21], a subtrochanteric fracture occurred at the age of ten weeks, while the patient was being tested for hip dislocation. In one [36] a spontaneous fracture occurred through the upper humeral epiphysis.…”

Section: Fracturesmentioning

confidence: 99%