Literature DB >> 117245

Phenylketonuria in Indian children.

G E Joshua, S Chandy, A N Radhakrishnan, D Mammen, K V Mathai.   

Abstract

Three untreated phenylketonuric Indian children aged respectively 3 1/2 years, 1 1/2 years and 1 year showed rapid neurological deterioration. Plasma, cerebrospinal fluid and urine phenylalanine concentrations were significantly raised and the phenylalanine-tyrosine ratio was high. Analysis of a biopsy of the right frontal lobe of the brain in one case showed the myeline lipids--cerebroside and sulphatide--to be decreased. The total cerebroside in white matter was low. Light microscopy showed marked pallor of the white matter of the brain and extensive spongy degeneration. Ultrastructurally these spongy vesicles are located between the lamellae of the myelin sheath.

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Year:  1978        PMID： 117245     DOI： 10.1007/bf01801847

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  15 in total

1.  Neuropathological observations in maple syrup urine disease: branched-chain ketoaciduria.

Authors:  J SILBERMAN; J DANCIS; I FEIGIN
Journal:  Arch Neurol       Date:  1961-10

2.  A chemical investigation of the defects of myelination in phenylketonuria.

Authors:  L CROME; V TYMMS; L I WOOLF
Journal:  J Neurol Neurosurg Psychiatry       Date:  1962-05       Impact factor: 10.154

3.  Neuro-pathologic observations in phenylketonuria.

Authors:  C M POSER; L VAN BOGAERT
Journal:  Brain       Date:  1959-03       Impact factor: 13.501

4.  Impaired myelin formation in experimental hyperphenylalaninaemia.

Authors:  S N Shah; N A Peterson; C M McKean
Journal:  J Neurochem       Date:  1972-02       Impact factor: 5.372

5.  Lipid changes in the brain in phenylketonuria.

Authors:  J N Cumings; I K Grundt; T Yanagihara
Journal:  J Neurol Neurosurg Psychiatry       Date:  1968-08       Impact factor: 10.154

6.  Maternal phenylketonuria. The composition of cerebral lipids in an affected offspring.

Authors:  J H Menkes; E Aeberhard
Journal:  J Pediatr       Date:  1969-06       Impact factor: 4.406

7.  Metabolic anomalies detected during a systematic biochemical screening of mentally retarded cases.

Authors:  B S Rao; M N Subhash; H S Narayanan
Journal:  Indian J Med Res       Date:  1977-02       Impact factor: 2.375

8.  Neuropathology of phenylketonuria.

Authors:  N Malamud
Journal:  J Neuropathol Exp Neurol       Date:  1966-04       Impact factor: 3.685

9.  Cerebral lipids in phenylketonuria.

Authors:  J H Menkes
Journal:  Pediatrics       Date:  1966-06       Impact factor: 7.124

10.  Accelerated chromatographic analysis of amino acids commonly found in physiological fluids on a spherical resin of specific design.

Authors:  J V Benson; J A Patterson
Journal:  Anal Biochem       Date:  1965-11       Impact factor: 3.365
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