Abstract
Studies of eight patients with this syndrome confirm the characteristic pattern of abnormalities and the autosomal recessive mode of inheritance. The incidence is estimated to be approximately 1 in 100,000 live births. The liver lesion proved to be variable, with features of progressive parenchymal damage rather than a developmental defect of small bile ducts as previously suggested. Elevated levels of pipecolic acid were found in blood and urine and may be related to the basic defect.
MeSH terms
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Acidosis / blood
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Acidosis / epidemiology
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Acidosis / genetics
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Australia
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Bone Diseases / blood
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Bone Diseases / epidemiology*
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Bone Diseases / genetics
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Brain Diseases / blood
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Brain Diseases / epidemiology*
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Brain Diseases / genetics
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Humans
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Iron / blood
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Iron / metabolism
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Kidney / pathology
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Kidney Diseases / blood
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Kidney Diseases / epidemiology*
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Kidney Diseases / genetics
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Liver / pathology
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Liver Diseases / blood
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Liver Diseases / epidemiology*
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Liver Diseases / genetics
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Pedigree
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Pipecolic Acids / blood
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Pipecolic Acids / urine
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Syndrome