PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 8828639

German Maternal Phenylketonuria Study.

S Cipcic-Schmidt·F K Trefz·B Fünders·G Seidlitz·K Ullrich
View original source ↗Export metadata ↓

Abstract

The German maternal phenylketonuria (MPKU) Study began in 1989 and since 1992 works together with the American-Canadian MPKU Study. Main goals of the study are: (1) to find women with phenylketonuria (PKU) and mild untreated hyperphenylalaninaemia (HPA); (2) to inform them about the risks of an untreated pregnancy with PKU and HPA; (3) to evaluate the efficacy of the phenylalanine (Phe) restricted dietary treatment prior to and during pregnancy by following the physical and cognitive development of offspring from treated pregnancies. An interim report of the study is presented. Until now, 43 pregnancies have been followed. They resulted in 34 live births, 24 from women with PKU and 10 form women with HPA. There are significant negative correlations between the gestational age in which the dietary control (blood Phe level < 360 mumol/l) was reached and pregnancy outcome as measured by growth parameters and early cognitive and motor developmental quotients at the age of 2 years. For minimizing risks of MPKU, preconceptional dietary control is strongly recommended. Tracking and timely information of young women about risks of MPKU is of outmost importance.

Explore related subjects

Amino Acid Metabolism, Inborn ErrorsChild DevelopmentDiet, Protein-RestrictedFemaleGermanyGrowthHumansInfantIntelligencePhenylketonuria, MaternalPregnancyPregnancy OutcomeJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

S Cipcic-Schmidt, F K Trefz, B Fünders, G Seidlitz, K Ullrich. 1996. German Maternal Phenylketonuria Study.. https://doi.org/10.1007/pl00014241

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2007

Energy metabolism is compromised in skeletal muscle of rats chronically-treated with glutaric acid.

Glutaric acidemia type I (GA I) (GA I, McKusick 23167; OMIM # 231670) is an autosomal recessive metabolic disorder caused by glutaryl-CoA dehydrogenase deficiency (EC 1.3.99.7). Clinically, the disease is characterized by macrocephaly, hypotonia, dystonia and diskinesia. Since the pathophysiology of this disorder is not yet well established, in the present investigation we determined a number of energy metabolism parameters, namely (14)CO(2) production, the activities of the respiratory chain complexes I-IV and of creatine kinase, in tissues of rats chronically exposed to glutaric acid (GA). High tissue GA concentrations (0.6 mM in the brain, 4 mM in skeletal muscle and 6 mM in plasma) were induced by three daily subcutaneous injections of saline-buffered GA (5 micromol x g(-1) body weight) to Wistar rats from the 5th to the 21st day of life. The parameters were assessed 12 h after the last GA injection in cerebral cortex and middle brain, as well as in skeletal muscle homogenates of GA-treated rats. GA administration significantly inhibited the activities of the respiratory chain complexes I-III and II and induced a significant increase of complex IV activity in skeletal muscle of rats. Furthermore, creatine kinase activity was also inhibited by GA treatment in skeletal muscle. In contrast, these measurements were not altered by GA administration in the brain structures studied. Taken together, it was demonstrated that chronic GA administration induced an impairment of energy metabolism in rat skeletal muscle probably due to a higher tissue concentration of this organic acid that may be possibly associated to the muscle weakness occurring in glutaric acidemic patients.

Amino Acid Metabolism, Inborn Errors↗
PubMed2007

Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.

Patients with long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD) deficiency manifest hypoketotic hypoglycemia, hepatomegaly, hypotonia, lactic acidemia, acute renal failure, cardiomyopathy, and sudden death. We describe four novel mutations of the alpha- and beta-subunits of the mitochondrial trifunctional protein in four patients from three unrelated families. Their plasma acylcarnitine profiles suggested the presence of LCHAD deficiency by demonstrating highly elevated 3-hydroxyacyl carnitines by tandem mass spectrometry (MS/MS). Patients 1 and 2 had siblings who had died of lactic acidemia during the neonatal period. These patients also manifested lactic acidemia and died in the neonatal period. Patient 3 had a family history of Reye-like syndrome. She exhibited acute renal failure, rhabdomyolysis, pericardial effusion, and myopathy at the age of 12 years. DNA analysis of patients 1 and 2 revealed homozygosity for a c.1689+2T>G mutation of the HADHA gene, resulting in the skipping of exon 16 with an in-frame 69-bp deletion. Patient 3 was a compound heterozygosity of the HADHB gene, N307D/N389D. Patient 4, a 25-month-old baby, manifested recurrent episodes of lethargy, metabolic acidosis, elevated liver enzymes, and dark urine from the age of 10 months. Mutation analysis of the HADHB gene of patient 4 identified compound heterozygosity of N114D/N307D.

Amino Acid Metabolism, Inborn Errors↗