TY  - JOUR
AB  - Hyperammonemia in a newborn is a serious condition, which requires prompt intervention as it can lead to severe neurological impairment and death if left untreated. The most common causes of hyperammonemia in a newborn are acute liver failure and inherited metabolic disorders. Several mitochondrial disorders have been described as a cause of severe neonatal hyperammonemia. Here we describe a new case of adenosine-triphosphate (ATP) synthase deficiency due to m.8528T>C mutation as a novel cause of severe neonatal hyperammonemia. So far six patients with this mutation have been described but none of them was reported to need hemodialysis in the first days of life. This broadens the so far known differential diagnosis of severe neonatal hyperammonemia requiring hemodialysis.
AU  - Žigman, T.*
AU  - Šikić, K.*
AU  - Petković Ramadža, D.*
AU  - Mayr, J.*
AU  - Wortmann, S.*
AU  - Prokisch, H.
AU  - Ninković, D.*
AU  - Dilber, D.*
AU  - Šarić, D.*
AU  - Rubić, F.*
AU  - Galić, S.*
AU  - Slaviček, J.*
AU  - Belina, D.*
AU  - Fumić, K.*
AU  - Barić, I.*
C1  - 60606
C2  - 49401
CY  - Genthiner Strasse 13, D-10785 Berlin, Germany
SP  - 389-393
TI  - ATP synthase deficiency due to m.8528T>C mutation - A novel cause of severe neonatal hyperammonemia requiring hemodialysis.
JO  - J. Pediatr. Endocrinol. Metab.
VL  - 34
IS  - 3
PB  - Walter De Gruyter Gmbh
PY  - 2021
SN  - 0334-018X
ER  - 

TY  - JOUR
AB  - Autosomal recessive hypophosphatemic rickets 2 (ARHR2) is a rare form of renal tubular phosphate wasting disorder. Loss of function mutations of the ecto-nucleotide pyrophosphatase/pyrophosphodiesterase 1 gene (ENPP1) causes a wide spectrum of phenotypes, ranging from lethal generalized arterial calcification of infancy to hypophosphatemic rickets with hypertension. Hearing loss was not previously thought to be one of the features of the disease entities and was merely regarded as a complication rather than a part of the disease. We report two children who presented in mid to late childhood with progressive varus deformity of their legs due to hypophosphatemic rickets caused by mutations in the ENPP1 gene. Both children had evidence of progressive hearing loss requiring the use of hearing aids. This report of two unrelated infants with compound heterozygous mutations in ENPP1 and previously published cases confirms that mild to moderate hearing loss is frequently associated with ARHR2. Early onset conductive hearing loss may further distinguish the autosomal recessive ENPP1 related type from other types of hypophosphatemia.
AU  - Steichen-Gersdorf, E.*
AU  - Lorenz-Depiereux, B.
AU  - Strom, T.M.
AU  - Shaw, N.J.*
C1  - 44450
C2  - 36849
CY  - Berlin
SP  - 967-970
TI  - Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
JO  - J. Pediatr. Endocrinol. Metab.
VL  - 28
IS  - 7-8
PB  - Walter De Gruyter Gmbh
PY  - 2015
SN  - 0334-018X
ER  - 

TY  - JOUR
AB  - Abstract Objective: An obesity risk allele at the NEGR1 locus was shown to be associated with weight regain after a lifestyle intervention in obese adults. Independent confirmation and studies in children are lacking. Therefore, we analyzed the impact of this and 11 additional obesity susceptibility loci on weight regain after a lifestyle intervention in overweight children. Design and Methods: We longitudinally analyzed the changes in weight status as body mass index standard deviation score (BMI-SDS) in 282 overweight children (10.6±2.5 years, 47% male, BMI 27.1±3.9 kg/m2) both at the end of a 1-year lifestyle intervention and at 1 year after the end of intervention. We genotyped obesity risk single nucleotide polymorphisms (SNPs) derived from genome-wide association studies in or in proximity to the following genes: NEGR1, TNKS, SDCCAG8, FTO, MC4R, TMEM18, PTER, MTCH2, SH2B1, MAF, NPC1, and KCTD15. Results: The children reduced their BMI-SDS (-0.28±0.35; p<0.001) during intervention and increased their BMI-SDS between the end of intervention and 1 year later (+0.05±0.36; p=0.027). None of the SNPs including NEGR1 was related significantly to weight regain. Conclusions: We found no evidence for effects of any of the GWAS-based obesity marker alleles on weight regain in the course of 1 year after an intervention.
AU  - Hinney, A.*
AU  - Wolters, B.*
AU  - Pütter, C.*
AU  - Grallert, H.
AU  - Illig, T.
AU  - Hebebrand, J.*
AU  - Reinehr, T.*
C1  - 28106
C2  - 32940
SP  - 1209-1213
TI  - No impact of obesity susceptibility loci on weight regain after a lifestyle intervention in overweight children.
JO  - J. Pediatr. Endocrinol. Metab.
VL  - 26
IS  - 11-12
PB  - De Gruyter
PY  - 2013
SN  - 0334-018X
ER  - 

TY  - JOUR
AU  - Lombardo, F.*
AU  - Chiurazzi, P.*
AU  - Hörtnagel, K.
AU  - Arrigo, T.*
AU  - Valenzise, M.*
AU  - Meitinger, T.
AU  - Messina, M.F.*
AU  - Salzano, G.*
AU  - Barberi, I.*
AU  - de Luca, F.*
C1  - 2175
C2  - 23624
SP  - 1391-1397
TI  - Clinical picture, evolution and peculiar molecular findings in a very large pedigree with Wolfram syndrome.
JO  - J. Pediatr. Endocrinol. Metab.
VL  - 18
PY  - 2005
SN  - 0334-018X
ER  -