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Curious neurologic sequelae in galactosemia.
Pediatrics. 1984 Mar; 73(3):309-12.Ped

Abstract

Two siblings with classic transferase deficiency galactosemia that was detected at birth have been treated with lactose restriction since the neonatal period. Both patients developed a unique and progressive neurologic syndrome of mental retardation, tremor, and ataxia. Careful review of the family history and medical records, the absence of metabolic disturbances other than those related to galactosemia, and the aggregate physical findings and neurodiagnostic studies ruled out other neurologic disorders in these siblings. It is therefore proposed that these patients represent a subgroup of transferase-deficient galactosemic patients, who develop characteristic neurologic sequelae with conventional dietary management. The existence of this subgroup should be considered in evaluations of therapeutic responses in cohorts of patients with galactosemia. Further, galactosemia should be included in the differential diagnosis of tremor and ataxia in the setting of mental retardation.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

6701054

Citation

Lo, W, et al. "Curious Neurologic Sequelae in Galactosemia." Pediatrics, vol. 73, no. 3, 1984, pp. 309-12.
Lo W, Packman S, Nash S, et al. Curious neurologic sequelae in galactosemia. Pediatrics. 1984;73(3):309-12.
Lo, W., Packman, S., Nash, S., Schmidt, K., Ireland, S., Diamond, I., Ng, W., & Donnell, G. (1984). Curious neurologic sequelae in galactosemia. Pediatrics, 73(3), 309-12.
Lo W, et al. Curious Neurologic Sequelae in Galactosemia. Pediatrics. 1984;73(3):309-12. PubMed PMID: 6701054.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Curious neurologic sequelae in galactosemia. AU - Lo,W, AU - Packman,S, AU - Nash,S, AU - Schmidt,K, AU - Ireland,S, AU - Diamond,I, AU - Ng,W, AU - Donnell,G, PY - 1984/3/1/pubmed PY - 1984/3/1/medline PY - 1984/3/1/entrez SP - 309 EP - 12 JF - Pediatrics JO - Pediatrics VL - 73 IS - 3 N2 - Two siblings with classic transferase deficiency galactosemia that was detected at birth have been treated with lactose restriction since the neonatal period. Both patients developed a unique and progressive neurologic syndrome of mental retardation, tremor, and ataxia. Careful review of the family history and medical records, the absence of metabolic disturbances other than those related to galactosemia, and the aggregate physical findings and neurodiagnostic studies ruled out other neurologic disorders in these siblings. It is therefore proposed that these patients represent a subgroup of transferase-deficient galactosemic patients, who develop characteristic neurologic sequelae with conventional dietary management. The existence of this subgroup should be considered in evaluations of therapeutic responses in cohorts of patients with galactosemia. Further, galactosemia should be included in the differential diagnosis of tremor and ataxia in the setting of mental retardation. SN - 0031-4005 UR - https://www.unboundmedicine.com/medline/citation/6701054/Curious_neurologic_sequelae_in_galactosemia_ L2 - http://pediatrics.aappublications.org/cgi/pmidlookup?view=long&pmid=6701054 DB - PRIME DP - Unbound Medicine ER -