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  • Cognitive deficits  (1)
  • Mitochondrial myopathy  (1)
  • Spastic paraplegia  (1)
  • 1
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Cognitive deficits ; Iron deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A retrospective study of 53 patients with phenylketonuria (PKU), whose disease was managed with a low-phenylalanine diet, revealed a high incidence of iron depletion (as reflected by subnormal serum ferritin concentrations). Serum ferritin concentrations under 10 μg/l were found in one out of six infants aged 5–12 months. Concentrations under 16 μg/l were found in 16 of 22 children aged 1–3 years and in 11 of 25 children aged 4–12 years. Dietary iron, estimated from prescribed intakes of medical foods, exceeded the Canadian recommended nutrient intake, suggesting that low stores of iron may be secondary to reduced bioavailability and absorption of iron. These findings suggest that the current dietary management of PKU is associated with an increased risk for low iron stores. Investigators have reported an association in young children between iron-deficiency anaemia and both cognitive and motor disturbances. Children with PKU, already at risk of neurological damage because of phenylalanine neurotoxicity, may be at increased risk as a result of iron depletion. Serum ferritin as well as haemoglobin concentration should be monitored, along with plasma phenylalanine and tyrosine, to ensure optimum treatment of affected children.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Marfan ; NADH-coenzyme Q reductase ; Lactic acidosis ; Respiratory chain ; Mitochondrial myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report the case of a 16-month-old male with the neonatal appearance of Marfan syndrome (NMS), with dolichocephaly, a long midface, deep-set eyes, arachnodactyly, dislocated lenses and carciovascular abnormalities. The presence of persistent lactic acidosis led to studies which disclosed mitochondrial complex I deficiency. We speculate that this unusual association may be due to the combination of an inherited mutation affecting complex I activity along with a de novo mutation disrupting the corresponding locus and an adjacent NMS locus on the homologous autosome. The possibility that the phenotype observed in this patient is directly due to the mitochondrial defect cannot be excluded.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Megaloblastic anaemia ; Vitamin B12 ; deficiency ; Spastic paraplegia ; Tremor
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Following several years absence from clinical follow up, an 18-year-old female on diet therapy for phenylketonuria presented with spastic paraparesis, tremor, disorientation, slurred speech, distractibility, deteriorating mental function and megaloblastic anaemia (Hb 64g/l mean corpuscular volume 121). Plasma phenylalanine levels were 100–600 μmol/l for the first 18 months of life but thereafter, because of serious psycho-social factors, 〉 1200 μmol/l. Her diet had strictly excluded all meats, eggs and dairy products but she had been ingesting her medical food (Lofenalac) only irregularly. Further investigation revealed a vitamin B12 level of 65.8 pmol/l (normal 150–670). Treatment with oral B12 quickly corrected her anaemia and there was a gradual improvement in speech, gait, tremor, disorientation and mood but mild spastic diplegia remained. This case prompted us to survey 37 adolescent and young adult phenylketonuria patients in our clinic – 28 were on diet therapy, 9 were off (age 11–35 years, mean 21.6 years, 17 males, 20 females). Those on diet were not under ideal metabolic control. Six (16%) had subnormal serum B12 levels (〈 150 pmol/l) and another six had borderline low values (150–200 pmol/l). None had specific neurological signs of subacute combined degeneration. Serum methylmalonic acid and homocysteine were not measured. On the basis of this survey we recommend that complete blood count, serum B12, RBC folate, methylmalonic acid and homocysteine be routinely measured in adolescents and young adults with phenylketonuria.
    Type of Medium: Electronic Resource
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