Classical galactosaemia revisited

@article{Bosch2006ClassicalGR,
  title={Classical galactosaemia revisited},
  author={A. Bosch},
  journal={Journal of Inherited Metabolic Disease},
  year={2006},
  volume={29},
  pages={516-525}
}
  • A. Bosch
  • Published 2006
  • Biology, Medicine
  • Journal of Inherited Metabolic Disease
SummaryClassical 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… Expand
Classic galactosemia: dietary dilemmas
  • A. Bosch
  • Biology, Medicine
  • Journal of Inherited Metabolic Disease
  • 2010
TLDR
Despite a continued galactose-restricted diet, and irrespective of a neonatal crisis, many patients suffer from long-term complications, such as reduced cognitive ability, language impairment, decreased bone mass, and hypergonadotrophic hypogonadism in women. Expand
Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.
TLDR
The case of a 7-week-old girl who was first diagnosed with liver failure, hypoprotidaemia, ascites and generalized edemas is reported to show that cataplerosis could play a role in the pathophysiology of the neonatal liver disease observed in classical galactosemia. Expand
Classic Galactosemia: Indian Scenario.
TLDR
Long term outcome is somewhat frustrating, as despite early diagnosis and strict dietary therapy, many, inevitably demonstrate long-term complications such as cognitive and motor dysfunction, speech and learning difficulties, osteoporosis and hypogonadism with infertility. Expand
Galactosemia: when is it a newborn screening emergency?
  • G. Berry
  • Biology, Medicine
  • Molecular genetics and metabolism
  • 2012
TLDR
A relatively simple classification scheme for GALT deficiency is utilized to help the clinician make the correct therapeutic decision after an NBS test has returned positive for galactosemia. Expand
A Case of Classical Galactosemia caused by Compound Heterozygous Mutations of the GALT Gene
TLDR
The case presented here was that of an 11-day-old female infant who had elevated galatose levels upon initial neonatal screening test with persistent cholestatic jaundice, coagulopathy, and hepatomegaly and was provided with a lactose/galactose-restricted diet as per her final diagnosis. Expand
Galactosemia
TLDR
Classic galactosemia, resulting from any of more than 250 mutations in the GALT gene, initially presents in the newborn period with subtle, nonspecific clinical signs, such as feeding intolerance, jaundice, lethargy, hypotonia, vomiting, and poor weight gain, but advances to a severe life-threatening event if left untreated. Expand
Classical galactosemia in a Thai infant: case report and review of the literature
TLDR
The fourth known published case of classical galactosemia in a Thai infant developed persistent jaundice, hepatosplenomegaly, and lethargy, since introduction to breast-feeding is presented. Expand
Clinical, molecular, and genetic evaluation of galactosemia in Turkish children.
TLDR
It is suggested that galactosemia should be included in the national newborn screening program in order to make earlier diagnoses, as 43% of patients's disease could be diagnosed at an early stage. Expand
Sweet and sour: an update on classic galactosemia
TLDR
Some of the latest developments in clinical practice and research findings on classic galactosemia, an enigmatic disorder with many unanswered questions warranting dedicated research are reviewed. Expand
Differential Proteomics of Urinary Exovesicles from Classical Galactosemic Patients Reveals Subclinical Kidney Insufficiency.
Classical galactosemia is caused by a nearly complete deficiency of galactose-1-phosphate uridyltransferase (GALT; EC 2.7.712), resulting in a severely impaired galactose metabolism withExpand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 91 REFERENCES
Clinical features of galactokinase deficiency:A review of the literature
TLDR
Inhibition of galactokinase may be a promising approach for controlling damage in GALT-deficient patients, as long-term follow-up of patients with this disorder has shown that most patients develop abnormalities such as a disturbed mental and/or motor development, dyspraxia and hypergonadotropic hypogonadism. Expand
An updated review of the long-term neurological effects of galactosemia.
TLDR
It is clear that initiation of dietary restriction of galactose in the newborn period produces reversal of hepatic, renal, brain, and immune dysfunction, along with reduction of the accumulated Galactose metabolites. Expand
Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia
TLDR
Newborn screening for classical galactosaemia does not change the long-term complications of the disease such as speech disorders, mental retardation, ataxia and in females hypergonadotropic hypogonadism. Expand
Verbal Dyspraxia and Galactosemia
TLDR
It is concluded that total body oxidation of galactose to CO2 in expired air reflects genotype and that this breath test is a sensitive predictor of verbal dyspraxia in patients with Galactosemia. Expand
Urinary Galactonate in Patients with Galactosemia: Quantitation by Nuclear Magnetic Resonance Spectroscopy
TLDR
The use of 1H and 13C nuclear magnetic resonance, which required only the concentration of urine without derivatization, to detect and quantitate urinary galactonate, provides evidence that the first reaction in the oxidative pathway of galactose metabolism described in rat liver in 1966 is activated in patients with a variety of Galactose-1-phosphate uridylyltransferase gene mutations even while on a lactose-restricted diet. Expand
Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia
TLDR
It is found that galactosaemic patients and normal subjects synthesise gram quantities of galactose per day, and the rate of synthesis ranged from 0.53-1.05 mg/kg per h. Expand
Living with classical galactosemia: health-related quality of life consequences.
TLDR
The results of the present study indicate that having galactosemia negatively influences the HRQoL, and early and regular evaluation and support of possible cognitive problems should be a major part of the protocol for the follow-up of patients with classical galactOSEmia. Expand
Effects of galactosemia in utero
  • J. Holton
  • Medicine
  • European Journal of Pediatrics
  • 2005
TLDR
It has been concluded that the liver pathology seen in some patients who died in the neonatal period originated prenatally, and some studies have found that galactosemia is associated with reduced birth weight. Expand
Hypergonadotropic hypogonadism in female patients with galactosemia.
TLDR
Female patients with galactosemia have a high incidence of ovarian failure due to acquired ovarian atrophy, andGalactose or its metabolites may be toxic to the ovarian parenchyma, particularly during the immediate neonatal period. Expand
Curious neurologic sequelae in galactosemia.
TLDR
Two siblings with classic transferase deficiency galactosemia that was detected at birth have been treated with lactose restriction since the neonatal period and developed a unique and progressive neurologic syndrome of mental retardation, tremor, and ataxia, which is proposed to represent a subgroup of transferase-deficient Galactosemic patients who develop characteristic neurologic sequelae with conventional dietary management. Expand
...
1
2
3
4
5
...