Asunto(s)
Distonía/complicaciones , Microcefalia/complicaciones , Errores Innatos del Metabolismo de los Aminoácidos/metabolismo , Errores Innatos del Metabolismo de los Aminoácidos/orina , Encefalopatías Metabólicas/metabolismo , Encefalopatías Metabólicas/orina , Distonía/diagnóstico , Distonía/orina , Cromatografía de Gases y Espectrometría de Masas , Glutaril-CoA Deshidrogenasa/deficiencia , Glutaril-CoA Deshidrogenasa/metabolismo , Glutaril-CoA Deshidrogenasa/orina , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Microcefalia/diagnóstico , Microcefalia/orinaRESUMEN
OBJECTIVE: To show that the head may shrink in adult patients with aspartylglucosaminuria (AGU), a neurodegenerative disease. METHOD: The head circumference (HC) of 40 adult patients (age at baseline 15 to 47) was measured twice with an interval of 10 years. Of these 40, 21 aged 15-47 and 19 young patients aged 5-14 as well as 40 healthy controls underwent lateral cephalometric radiography. RESULTS: During 10 years' follow-up, the HC of 26 (65%) had decreased by 1 to 4.5 cm (mean 1.7, P < 0.001). Evaluation of lateral skull radiographs revealed that patients aged 15 or more had significantly thicker skulls than did younger patients (P = 0.015). Mean intracranial length (glabella-opisthocranium) of the patients aged 15 or more was significantly shorter than in patients aged 14 years or less (P = 0.029). These measurements indicated that brain volume had decreased. CONCLUSIONS: Macrocephalia in childhood followed by reduced brain volume in adulthood is evident in patients with AGU and is reflected by a decrease in head size.
Asunto(s)
Acetilglucosamina/análogos & derivados , Aspartilglucosaminuria , Enfermedades por Almacenamiento Lisosomal/diagnóstico , Microcefalia/diagnóstico , Acetilglucosamina/orina , Adolescente , Adulto , Anciano , Aspartilglucosilaminasa/genética , Cefalometría , Niño , Preescolar , Demencia/diagnóstico , Demencia/genética , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Enfermedades por Almacenamiento Lisosomal/genética , Masculino , Microcefalia/orina , Valores de ReferenciaRESUMEN
3-Hydroxyisobutyric aciduria is a rare biochemical finding associated with a variable clinical phenotype in the literature. We report two siblings excreting abnormal levels of this metabolite from a consanguineous family who manifested distinct phenotypic variation. We speculate as to whether this biochemical anomaly may simply be an incidental finding and suggest that pre-natal counselling on the basis of metabolite identification may be unwarranted.
Asunto(s)
Hidroxibutiratos/orina , Errores Innatos del Metabolismo/genética , Errores Innatos del Metabolismo/orina , Microcefalia/genética , Microcefalia/orina , Niño , Salud de la Familia , Femenino , Heterogeneidad Genética , Humanos , Masculino , FenotipoRESUMEN
Cohen syndrome (MIM 216550) is an autosomal recessive disorder of unknown pathogenesis. The clinical manifestations of Cohen syndrome can be explained as a connective tissue disorder. We found a remarkably high level of urinary hyaluronic acid in 3 patients with Cohen syndrome. Hyperhyaluronic aciduria is a characteristic finding in Werner syndrome and some other conditions. We suggest that the basic defect of Cohen syndrome is associated with a metabolic abnormality in the extracellular matrix.
Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Múltiples/orina , Ácido Hialurónico/orina , Adolescente , Niño , Preescolar , Femenino , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/orina , Leucopenia/diagnóstico , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/orina , Microcefalia/diagnóstico , Microcefalia/orina , Obesidad/diagnóstico , Obesidad/orina , SíndromeRESUMEN
A mother with phenylketonuria and hyperphenylalaninaemia of 960 mumol/L with four intellectually deficient offspring is described. In addition a mother with hyperphenylalaninaemia of 2100 mumol/L and two intellectually deficient microcephalic children is described. None of the affected children exhibited elevations of blood phenylalanine. In utero phenylalanine toxicity was considered a factor causing the handicaps.
Asunto(s)
Discapacidades del Desarrollo/etiología , Fenilalanina/sangre , Fenilcetonurias/sangre , Niño , Preescolar , Discapacidades del Desarrollo/sangre , Discapacidades del Desarrollo/orina , Enfermedades en Gemelos , Femenino , Humanos , Lactante , Discapacidad Intelectual/sangre , Discapacidad Intelectual/etiología , Discapacidad Intelectual/orina , Inteligencia , Masculino , Microcefalia/sangre , Microcefalia/etiología , Microcefalia/orina , Fenilalanina/orina , Fenilcetonurias/orina , EmbarazoRESUMEN
Urinary taurine levels were estimated in 29 mentally retarded children. These levels were then compared with those of normal healthy children. The urinary taurine levels were significantly higher in the mentally retarded subjects. There is probably an intriguing relationship between taurine levels and mental retardation.