Molybdenum cofactor deficiency - phenotypic variability in a family with a late-onset variant
| Autor: | H A Simmonds, Lynette D. Fairbanks, Richard O. Robinson, E F Hughes |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Purine-Pyrimidine Metabolism
Inborn Errors medicine.medical_specialty Late onset Behavioral Symptoms Biology Irritability Xanthine Diagnosis Differential Lethargy chemistry.chemical_compound Developmental Neuroscience Internal medicine medicine Humans Oxidoreductases Acting on Sulfur Group Donors Age of Onset Child Molybdenum cofactor deficiency Molybdenum Genetics Hypoxanthine Molybdenum deficiency Brain Infant Lens Subluxation medicine.disease Purine/pyrimidine metabolism Magnetic Resonance Imaging Uric Acid Phenotype Endocrinology chemistry Pediatrics Perinatology and Child Health Uric acid Female Family Relations Neurology (clinical) Age of onset medicine.symptom |
| Zdroj: | Developmental Medicine & Child Neurology. 40:57-61 |
| ISSN: | 1469-8749 0012-1622 |
| Popis: | In a family with molybdenum cofactor deficiency, the onset in the index case was delayed until 1 year of age, when the patient presented with an episode of lethargy and inconsolable crying culminating in a seizure. By 17 months she showed mild motor delay, regression in language skills, and feeding difficulties. Progressive global deterioration followed, associated with sustained irritability, dystonic posturing, and further seizures, before her condition subsequently plateaued. Low plasma uric acid, raised urinary xanthine and hypoxanthine, and positive urinary sulphite were found, which, coupled with assay of sulphite oxidase activity in cultured fibroblasts, confirmed the diagnosis. A sibling had isolated lens dislocation and an identical biochemical profile. MRI in both children was strikingly abnormal. Molybdenum cofactor deficiency may present as a late-onset variant with considerable phenotypic variability. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text