E Plöchl's research while affiliated with Spitalulu Clinic Colentina and other places

Publications (46)

Article
There is a growing number of inborn errors of metabolism (IEM) with late onset but nevertheless life threatening course. Patients: Patients with late onset variants of urea cycle defects, fatty acid oxidation defects and organic acidurias are demonstrated. Methods: Biochemical, enzymatic, molecular methods and especially tandem mass spectrometry (T...
Article
Ornithine transcarbamylase (OTC) deficiency, the most common inherited urea cycle disorder, shows a spectrum of severity ranging from severe neonatal hyperammonemic coma to no symptoms among adults. We report on the multiorgan procurement from a donor who died of cerebral edema due to unrecognized late-onset OTC deficiency. The donor's OTC deficien...
Article
Abstract Ornithine transcarbamylase (OTC) deficiency, the most common inherited urea cycle disorder, shows a spectrum of severity ranging from severe neonatal hyperammonemic coma to no symptoms among adults. We report on the multiorgan procurement from a donor who died of cerebral edema due to unrecognized late-onset OTC deficiency. The donor's OTC...
Article
We report on late-onset ornithine transcarbamylase (OTC) deficiency in two families with mutations in the same codon, but different base substitutions. Onset of symptoms showed great variation, and five hemizygotes finally died. Clinical diagnosis was late and difficult. In family A, 1 patient also developed the signs of Gilbert's disease. In famil...
Article
To the Editor: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle.1,2 It is an X-linked disease that can range in severity from hyperammonemic coma in neonates to the absence of symptoms in adults.1,2 Liver transplantation is an effective treatment for patients with this disease.3 However, this disease has...
Article
Cytogenetic analysis, fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) were applied to characterize the Y-chromosomal breakpoints of three XX male patients. Two of these patients show a breakpoint within a protein kinase gene, PRKY, previously described as a hotspot of ectopic recombination between homologous regions on...
Article
Glutaric aciduria type I (GA-I) is a rare inherited metabolic disease with increased excretion of glutaric acid and its metabolites. Diagnosis is often delayed until the onset of irreversible neurological deficits. We reviewed the clinical and imaging (US, CT and MRI) findings in six patients with proven GA-I and with emphasis on the early US findi...
Article
The presence of Y-chromosomal sequences in the cells of patients with Turner-Syndrome (TS) is a risk factor for the development of gonadal tumors. Therefore and since demonstration of Y-material usually results in prophylactic gonadectomy optimal sensitivity and specifity of the diagnosis have to be attempted. We wanted to evaluate the diagnostic p...
Article
The hereditary deficiency of 3-hydroxy-3-methylglutaryl (HMG) CoA lyase (HL; OMIM 246450 [http://www3.ncbi.nlm.nih. gov:80/htbin-post/Omim/dispmim?246450]) results in episodes of hypoketotic hypoglycemia and coma and is reported to be frequent and clinically severe in Saudi Arabia. We found genetic diversity among nine Saudi HL-deficient probands:...
Article
Full-text available
The Ullrich-Turner syndrome (UTS) demonstrates a great clinical variability according to the cytogenetic and molecular genetic findings in various tissues. In few cases the karyotype reveals the presence of an additional Y-bearing cell line which is referred to as a borderline case of mixed gonadal dysgenesis. In this condition, Turner specific sti...
Article
Administration of human growth hormone (GH) has yielded conflicting results concerning its role on thyroid function in patients with Ullrich-Turner syndrome. Therefore, we investigated the course of thyroid hormone parameters and thyroxin binding globulin in relation to GH therapy, IGF-I and additional oxandrolone-(Ox) or testosterone (T) treatment...
Article
In 41 girls with Turner syndrome, the growth hormone (GH) peak values during stimulation tests and parameters of spontaneous nocturnal GH secretion were studied and compared with respect to different karyotypes, short-term growth response to GH therapy, and final height. 22.0% of the girls tested had a subnormal (peak < 11 ng/ml) and 9.7% a patholo...
Article
Twenty patients with Turner syndrome (CA 7.3-16.4 years) were treated with growth hormone (GH) alone (12-18 IU/m2/week) for 0.9-2.5 years. Subsequently, all patients received GH 18 IU/m2/week in combination with oxandrolone (Ox) (0.0625 mg/kg/day po) or low dose testosterone (5 mg every 2 weeks, i.m.). Ethinylestradiol (50 ng/kg/day po) was started...
Article
Rett syndrome can be diagnosed only clinically. Several biochemical abnormalities are known, but none of them is characteristic. To our knowledge only one study on carnitine deficiency and one case of successful carnitine therapy have been reported. A five years old girl with normal milestones in the first months of life became retarded in the seco...
Article
We have studied the course over age of fasting insulin, sex hormone-binding globulin (SHBG), and insulin-like growth factor (IGF)-binding protein-1 (IGFBP-1) in untreated children with Turner's syndrome (TS) and measured the course of these parameters during therapy with GH alone and in combination with oxandrolone. Forty patients with TS, aged 3.7...
Article
Unlabelled: Thirty-nine girls with Ullrich-Turner syndrome (UTS) (median age 9.5 years) were treated with growth hormone (GH) with either 12 or 18 IU/m2 per week for 12 months followed by combination therapy with either oxandrolone (Ox) (0.0625 mg/kg/day po) or low-dose testosterone (T) (5 mg in every 2 weeks). Growth velocity improved significant...
Article
A large number of enzyme systems are examined for the diagnosis of mitochondrial myopathies including the pyruvate dehydrogenase complex, tricarboxylic-acid-cycle enzymes and respiratory-chain complexes. These investigations can be carried out in frozen tissue. For the study of oxidative phosphorylation in intact mitochondria, fresh muscle tissue i...
Article
In an earlier study we observed 411 patients with cerebral convulsions, 118 of whom had the first convulsion during the 1 year of life. Among these 118 children we found 76 with afebrile convulsions. In this study we present the development and outcome in 55 patients with afebrile convulsions in the 1 year of life which could be observed for some y...
Article
Clinical, biochemical, neuropathological and neurochemical findings in a case of Hartnup syndrome are reported. After initially normal development, the affected girl suffered progressive neuropsychiatric decline with statomotor and mental retardation and intractable seizures and died at the age of 2 years. Postmortem neuropathological and neurochem...
Article
Spontaneous growth of 141 untreated girls with Turner syndrome was analysed. Of the patients 25% were born prematurely; their weight and height were normal when compared to prematurely born healthy infants. However, birth weight and height was significantly retarded in Turner patients born at term. A curve for height and growth velocity for the age...
Article
A patient with 3-hydroxy-3-methylglutaryl-CoA lyase (HMG-CoA lyase, EC 4.1.3.4) deficiency presented consistently above-normal values of plasma amylase (EC 3.2.1.1). Activities measured were in the lower normal range in family members not proven heterozygotes and in the upper normal range in the proven heterozygotes. Heterozygosity was proven by in...
Article
Two boys with symptoms of food borne botulism are presented. Confirmation of diagnosis relied on proof of toxin in the serum of both patients by the so called mouse neutralization test, whereas the EMG showed negative results. Both boys recovered fully without administration of equine antitoxin. Differential diagnosis and treatment of botulism are...
Article
In a retrospective study of 411 children with cerebral convulsions over a period of 4 years, 160 patients with febrile seizures were found. This group consisted of 94 boys and 66 girls. The main purpose of this study was to establish the age of the first convulsive fit in each child. Febrile convulsions started in the first half year, increased in...
Article
In a retrospective study of 411 children with cerebral convulsions over a period of 4 years, 160 patients with febrile seizures were found. This group consisted of 94 boys and 66 girls. The main purpose of this study was to establish the age of the first convulsive fit in each child. Febrile convulsions started in the first half year, increased in...
Article
Es wird über den typischen, therapeutisch unbeeinflußbaren, fatalen Verlauf einer neonatalen Form einer nicht-ketotischen Hyperglycinämie mit charakteristisch erhöhtem Liquor-/Plasmaglycinquotienten berichtet. Die Blutsverwandtschaft der Eltern unterstreicht die bei dieser angeborenen Stoffwechselanomalie bekannte autosomal rezessive Vererbung. Das...
Article
In a male infant with macrocephaly and dystonic cerebral palsy glutaric aciduria type I was detected by analysis of urine for organic acids. Glutaric aciduria type I is an inherited metabolic disorder of organic acids due to a defect of glutaryl-CoA-dehydrogenase in the intermediate metabolic step of lysine and tryptophan degradation. In the urine...
Chapter
Bei der Glutarazidurie Typ I (GA-Typ I) handelt es sich um einen Mangel an Glutaryl-CoA-Dehydrogenase mit vermehrter Ausscheidung von Glutarat [1, 3]. Klinisch wird das Krankheitsbild charakterisiert durch eine progressive oder intermittierende Dystonie und Dyskinese und mentale Retardation von unterschiedlicher Schwere. Manchmal führt die Krankhei...
Article
The rare case of glutaric aciduria type I (GA Type I) is described. Its characteristics are discussed and compared with cases in the literature. This disease is basically due to a lack of glutaryl-CoA-dehydrogenase with increased excretion of glutaric acid. Most authors describe frontotemporal cerebral atrophy. In the majority of cases macrocephaly...
Article
Das seltene Krankheitsbild der Glutarazidurie Typ I wird am Beispiel einer eigenen Beobachtung vorgestellt, mit der vorliegenden Literatur verglichen und diskutiert. Dabei handelt es sich um einen Mangel an Glutaryl-CoA-Dehydrogenase mit vermehrter Ausscheidung von Glutarat. Die meisten Autoren weisen auf eine frontotemporale Atrophie hin. In viele...
Article
Es wird über ein Kleinkind mit 3-Hydroxy-3-Methylglutaraturie berichtet, das während des ersten Lebensjahres wegen Erbrechens und Ernährungsschwierigkeiten mit einer ⅓ Milch ernährt wurde. Im Alter von einem Jahr, nach Umstellung auf Vollmilch, kam es zum Auftreten von Durchfall, Erbrechen und Bewußtseinstrübung und damit zur stationären Aufnahme....
Article
Die subakut nekrotisierende Enzephalomyelopathie (SNE), eine neuropathologisch-morphologisch definierte Erkrankung, zeigt ein sehr heterogenes klinisches Bild. Im Gegensatz zu den viel selteneren juvenilen und adulten Verlaufsformen läßt sich die infantile Form noch am ehesten klinisch abgrenzen. Vier Patienten mit einer SNE zeigten jeweils Kombina...
Article
Cranial computed tomography in the initial stage of the intermediate phenotype of maple syrup urine disease (MSUD) demonstrates diffuse, symmetric hypodensities in white and grey matter, which show a complete return to normal after early introduction of an adequate protein-restrictive diet. If diagnosis of this disease is missed or delayed, progres...
Article
Intermediäre Phänotypen der Ahornsiruperkrankung (Leuzinose) manifestieren sich computertomographisch ausschließlich in ihrer Initialphase sowohl als weiße als auch graue Hirnsubstanz involvierende diffuse Dichteerniedrigungen ohne marginales Kontrastmittelenhancement, die bei frühzeitig einsetzender adäquater eiweißrestriktiver Diät nach einigen W...
Article
Ein schwer retardiertes Kind mit Tetraspastik erlag mit 4 Jahren einem respiratorischen Infekt, bei dem es zu einer ausgeprägten Azidose, Elektrolytentgleisung und vermehrter Lactatausscheidung gekommen war. Die neuropathologische Untersuchung erbrachte Hinweise für das Vorliegen einer Aminosäurenstoffwechselstörung, die durch computertomographisch...
Article
We report about the child of a mother with phenylketonuria, which is not suffering from PKU, but is microcephalic and mentally retarded. This retardation is probably a sequel of an intrauterine Hyper-Phenylalanine-status. It is supposed that an intrauterine damage of the offspring even in cases with low Phenylalanine-levels of the mother is possibl...
Article
Two critically ill, male newborns developed pulmonary bleeding and died after four respectively three days. In both infants an inborn error in the urea cycle (carbamylphosphatsynthetase-deficiency and ornithintranscarbamylase-deficiency respectively) was demonstrable. It is suggested that hyperammonemia could be the reason for pulmonary bleeding. P...
Article
This is a report of a male neonate with hyperammonemia who showed progressive neurologic symptoms and pulmonary bleeding due to carbamyl phosphate synthetase deficiency. This newborn male died in coma after only 119 hours. His elder brothers died under similar circumstances in the first days of life, and a CPS-deficiency is not to be excluded. The...
Article
This is a report of a family with hyperammonemia in the newborn, very probably due to ornithine transcarbamylase deficiency. Typically the male infant died in the newborn period within 74 hours. In the female newborn it was possible to provide a normal development with protein restricted diet. In mother's line there are unexplained death's of infan...
Article
This is a report of 6 single cases of prenatal virus myocarditis originated from an endemic region around Salzburg. The cardiac involvement showed different grades dependent too on time of infection and on transfer of maternal antibodies to the child. Infections immediately before delivery cause severe illness, but infections some weeks before birt...
Article
Between 3700 and 3900 children are admitted annually to this children's hospital. During the past four years a total of 455 children with convulsions were admitted for investigation. 255 of these cases were calcified as epilepsy, 202 as febrile convulsions and 28 as neonatal convulsions. A quarter of the epileptic children showed fits of the petit...
Article
There is a growing number of inborn errors of metabolism (IEM) with late onset but nevertheless life threatening course. Patients with late onset variants of urea cycle defects, fatty acid oxidation defects and organic acidurias are demonstrated. Biochemical, enzymatic, molecular methods and especially tandem mass spectrometry (TMS) are used for di...
Article
This is a report of the neonatal form of nonketotic hyperglycinemia with rapid progressing neurological symptoms, respiratory distress and seizures. The EEG pattern is characteristic, the ratio of cerebrospinal fluid to plasma glycine abnormally high. The result of cranial computerized tomography demonstrates also in our patient that nonketotic hyp...
Article
This is a report of an infant with 3-hydroxy-3-methylglutaryl-CoA-lyase deficiency. During infancy vomiting and feeding difficulties had been found repeatedly. Nutrition consisted in a mixture of one third of milk diluted with two thirds of water. Shortly before admission a change to whole milk had taken place. The one year old girl was admitted to...

Citations

... 11 Males are usually severely affected, with 15%-20% of females ultimately developing symptoms. 12 Late-onset UCD is associated with diverse symptoms and are associated with a high mortality rate of 11%. 1 Mortality rate (neonatal plus late-onset) is greatest in carbamoyl phosphate synthetase 1 deficiency (CPS1D, OMIM 608307) (42%), followed by OTCD (11%), argininosuccinic acid synthetase deficiency (ASSD, OMIM 215700) (7%), and ASLD (6%). 1 Therefore, it is essential that symptoms are recognized early to ensure prompt diagnosis and treatment, 5,13 otherwise the prognosis may be poor. 14 Prompt recognition is critical to reduce mortality and prevent irreversible neurological damage. ...
... Inheritance is autosomal recessive , and the incidence is quite low, except in Saudi Arabia where HL deficiency comprises 16% of all organic acidemia (Ozand et al. 1992). Otherwise, only 41 cases have been reported in the English literature (Marklova et al. 1987; Gibson et al. 1988a Gibson et al. , 1988b Gibson et al. , 1990 Gibson et al. , 1994 Wanders et al. 1990; Plochl et al. 1992; Mitchell et al. 1994 Mitchell et al. , 1998 Buesa et al. 1996; Casals et al. 1997; Pie et al. 1997; Zapater et al. 1998; Casale et al. 1998), and only five cases are known among Japanese (Yamaguchi et al. 1997). Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency So far, 15 different mutations have been identified in the HL gene of patients (Mitchell et al. 1993Mitchell et al. , 1994Mitchell et al. , 1998 Wang et al. 1996; Buesa et al. 1996; Casals et al. 1997; Pie et al. 1997; Zapater et al. 1998; Casale et al. 1998); this includes the R41Q and F305fs(-2) mutations common in Saudi Arabia (Mitchell et al. 1998). ...
... The same is found in Hartnup disease, as illustrated in Figure 3b, providing a significant relationship with 5p−, probably because the SLC6A19 gene mutated in Hartnup disease is located on band 5p15.33 (Kleta et al., 2004). The main features of Hartnup disease are neuropsychic symptoms, failure to thrive, photosensitivity, intermittent ataxia, nystagmus and tremor (Schmidtke et al., 1992). ...
... After GH treatment, increased serum IGF-1 or GH levels stimulate growth plate development and result in BA progression. Usually, BA progression rates within 1 year of CA are considered normal, but some studies have found that various rates of skeletal maturation can be associated with underlying diseases, [4,5] pubertal status, and obesity. [6] BA changes can be erratic over time, even in normal healthy boys. ...
... A study done by Al Eissa, found mean age of presentation was 15 months. [27][28][29] Male to female ratio was 57:43 (1.3:1). Male gender predominance was almost well documented in previous studies. ...
... Expression of symptoms is variable. One of the first clinical signs in more than 50 % of described cases [5, 6] was development of macrocephaly during the first 8 months [1, 5, 7, 8]. According to Hoffmann et al. [1] neuropathological changes in GA I appear to follow a characteristic and distinct course. ...
... The absence of ketosis is characteristic (1,2). Various newly developed methods of enzymatic diagnosis (3)(4)(5) We have previously reported on a family of a girl with HMG-CoA lyase deficiency who exhibited an attack of lethargy and who had liver enlargement, hypoglycemia, acidosis, and an initial increase of transaminases, but who developed normally (6,7). ...
... Neuroradiological studies in untreated encephalopathic newborns with MSUD show, in addition to a generalized cerebral edema, a characteristic pattern of localized intense edema involving the cerebellar white matter, the dorsal part of the brainstem, the cerebral peduncles, the posterior limb of the internal capsule, and the posterior aspect of the centrum semiovale [3][4][5], areas which are already myelinated at birth. Both the generalized and the "MSUD edema" subside on shortterm treatment [6][7][8]. They can either disappear or leave, as indicators of hypomyelination, well-deWned low-density lesions, located periventricularly or within the brainstem [5]. ...
... In one study, most were diagnosed between 5 months and 7 years of age while undergoing evaluation for developmental delay or seizures. 116,117 Several patients have had episodes of ketoacidosis, but acute encephalopathy is rare. 118 Increased concentrations of BCAAs and BCKAs in serum and urine are present. ...
... Other authors have extended the list of possible causes to include aspiration of maternal blood, 8 intrathoracic gastrogenic cysts, 9 intravenous administration of hyperosmolar solutions, 10 diffuse pulmonary embolism with drug microaggregates, 11 and urea cycle defects accompanied by hyperammonemia. 12,13 In separate reports Adamson et al. 14 and Cole et al. 15 showed that the lung effluents of infants with PH had low hematocrits and contained only small molecular weight plasma proteins. They concluded that the lung effluent in most cases of neonatal PH is hemorrhagic edema rather than whole blood. ...