Journal of Inherited Metabolic Disease

, Volume 29, Issue 4, pp 516–525 | Cite as

Classical galactosaemia revisited

metabolic Dissertation

Summary

Classical galactosaemia (McKusick 230400) is an: autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT; EC 2.7.712). Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycaemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. The gold standard for diagnosis of classical galactosaemia is measurement of GALT activity in erythrocytes. Gas-chromatographic determination of urinary sugars and sugar alcohols demonstrates elevated concentrations of galactose and galactitol. The only therapy for patients with classical galactosaemia is a galactose-restricted diet, and initially all galactose must be removed from the diet as soon as the diagnosis is suspected. After the neonatal period, a lactose-free diet is advised in most countries, without restriction of galactose-containing fruit and vegetables. In spite of the strict diet, long-term complications such as retarded mental development, verbal dyspraxia, motor abnormalities and hypergonadotrophic hypogonadism are frequently seen in patients with classical galactosaemia. It has been suggested that these complications may result from endogenous galactose synthesis or from abnormal galactosylation. Novel therapeutic strategies, aiming at the prevention of galactose 1-phosphate production, should be developed. In the meantime, the follow-up protocol for patients with GALT deficiency should focus on early detection, evaluation and, if possible, early intervention in problems of motor, speech and cognitive development.

Abbreviations

EGS

endogenous galactose synthesis

FSH

follicle-stimulating hormone

Gal-1-P

galactose 1-phosphate

GALE

UDP-galactose epimerase

GALK

galactokinase

GALM

galactose mutarotase

GALP

galactose-1-phosphatase

GALT

galactose-1-phosphate uridyltransferase

HRQoL

Health Related Quality of Life

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Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  1. 1.Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Centre (G8 205)University Hospital of AmsterdamAmsterdamThe Netherlands

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