Neurologic complications in galactosemia

Thomas K. Koch, Kathleen A. Schmidt, Joseph E. Wagstaff, Won G. Ng, Seymour Packman

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Two siblings, a 27-year-old man and his 24-year-old sister were diagnosed with classic transferase deficiency galactosemia at birth and were treated with strict lactose restriction. Despite well-documented dietary management, both siblings are mentally retarded and manifest a progressive neurologic condition characterized by hypotonia, hyperreflexia, dysarthria, ataxia, and a postural and kinetic tremor. Magnetic resonance imaging revealed moderate cortical atrophy, a complete lack of normal myelination, and multifocal areas of increased signal in the periventricular white matter on T2-weighting. These patients suggest that even with early diagnosis and treatment, individuals with galactosemia may have significant neurologic morbidity with abnormalities of white matter development. This finding raises the possibility of biochemical heterogeneity within the classic transferase deficiency group, as well as the possibility of a lack of available galactose metabolites necessary for glycolipid synthesis causing a disruption of normal myelin development.

Original languageEnglish (US)
Pages (from-to)217-220
Number of pages4
JournalPediatric Neurology
Volume8
Issue number3
DOIs
StatePublished - 1992
Externally publishedYes

Fingerprint

Galactosemias
Nervous System
Siblings
Transferases
Dysarthria
Abnormal Reflexes
Muscle Hypotonia
Glycolipids
Mentally Disabled Persons
Tremor
Ataxia
Lactose
Myelin Sheath
Galactose
Atrophy
Early Diagnosis
Magnetic Resonance Imaging
Parturition
Morbidity
White Matter

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Koch, T. K., Schmidt, K. A., Wagstaff, J. E., Ng, W. G., & Packman, S. (1992). Neurologic complications in galactosemia. Pediatric Neurology, 8(3), 217-220. https://doi.org/10.1016/0887-8994(92)90072-7

Neurologic complications in galactosemia. / Koch, Thomas K.; Schmidt, Kathleen A.; Wagstaff, Joseph E.; Ng, Won G.; Packman, Seymour.

In: Pediatric Neurology, Vol. 8, No. 3, 1992, p. 217-220.

Research output: Contribution to journalArticle

Koch, TK, Schmidt, KA, Wagstaff, JE, Ng, WG & Packman, S 1992, 'Neurologic complications in galactosemia', Pediatric Neurology, vol. 8, no. 3, pp. 217-220. https://doi.org/10.1016/0887-8994(92)90072-7
Koch TK, Schmidt KA, Wagstaff JE, Ng WG, Packman S. Neurologic complications in galactosemia. Pediatric Neurology. 1992;8(3):217-220. https://doi.org/10.1016/0887-8994(92)90072-7
Koch, Thomas K. ; Schmidt, Kathleen A. ; Wagstaff, Joseph E. ; Ng, Won G. ; Packman, Seymour. / Neurologic complications in galactosemia. In: Pediatric Neurology. 1992 ; Vol. 8, No. 3. pp. 217-220.
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