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PubMed1995

Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.

Medium chain acyl-CoA dehydrogenase deficiency (MCAD) is a defect in the mitochondrial oxidation of fatty acids. The disorder typically presents with episodes of vomiting and hypoglycemia, sometimes with changes in mental status and hepatic failure. These Reye's-like features may culminate in coma and death. Stress, intercurrent illness, and reaction to childhood immunization have been shown to precipitate acute metabolic episodes in MCAD patients. All cases are caused by mutations of the single MCAD gene on chromosome 1. Most clinically ascertained cases are caused by an A985G transition in exon 11. Here we report the preliminary findings of MCAD patients detected prospectively through a supplemental newborn screening program in Pennsylvania using tandem mass spectrometry. From the first 80,371 newborns screened we prospectively found nine babies with MCAD (1/8930) plus two additional newborns screened because of a previously known family history. Molecular analysis showed 56% of the detected patients to be compound heterozygotes for the A985G and a second mutation. This is in contrast to clinical retrospective studies which have found only 20% to be compound heterozygotes. We have identified two of the other mutations including a novel mutation (DG91/C92, 6-bp deletion) in one of our patients by using single-stranded conformation polymorphism (SSCP) and sequence analysis of conformers. Our results confirm that MCAD is one of the more common inborn errors of metabolism. The different mutation frequencies observed between retrospective clinical studies and our prospective newborn screening study suggest that clinical ascertainment may lead to preferential identification of the A985G mutation.

Acyl-CoA Dehydrogenase↗
PubMed1979

Evaluation of a state-wide neonatal screening programme.

A screening programme which was already established to detect phenylketonuria in the newborn period in South Australia was extended to include screening for galactosaemia, homocystinuria, hereditary tyrosinaemia, histidinaemia, maple syrup urine disease and severe alpha 1-antitrypsin deficiency for a trial period. Later, screening for hypothyroidism was introduced. Results suggest that screening for galactosaemia and hypothyroidism are useful additions to the programme. Screening for trrosinaemia and alpha 1-antitrypsin deficiency produced a high number of requests for repeat samples, causing anxiety and no positive benefit to patients. Homocystinuria, an eminently treatable condition, was not detected, nor was maple syrup urine disease, a much less readily treatable condition. Histidinaemia was detected only once. Screening for tyrosinaemia, alpha 1-antitrypsin deficiency, maple syrup urine disease and histidinaemia has been discontinued. Newborn screening in South Australia currently includes tests for phenylketonuria, hypothydroidism, galactosaemia and homocystinuria.

Amino Acid Metabolism, Inborn Errors↗
PubMed1986

A case of uridine diphosphate galactose-4-epimerase deficiency detected by neonatal screening for galactosaemia.

An infant with a deficiency of the enzyme uridine diphosphate galactose-4-epimerase was detected during galactosaemia screening of the Queensland newborn population. No case of epimerase deficiency has been reported previously in Australia and the incidence in our population is unknown. A deficiency of this enzyme is usually quite benign although two cases with a galactosaemia-like syndrome have been reported. This infant is developing normally, both intellectually and physically, in spite of extremely high levels of red blood cell galactose-1-phosphate. The introduction of newer methods of galactosaemia screening in Australia will probably result in the detection of other cases of this enzyme deficiency.

Australia↗