In 376 children, between 6 months and 5 years of age, with suspected urinary tract infection, 4 parameters of a routine urine examination were correlated with culture reports. In diagnosing urinary infection, the sensitivity and specificity of proteinuria was 79 and 80% respectively, that of bacteriuria 78 and 96% and that of pyuria > 10 wbc/hpf 80 and 82% respectively. 61% among the culture positive groups had all these three parameter present, as against only 0.5% in the culture negative group (P < 0.001). All these 3 parameters were absent in 70% in the culture negative group, as against 8% in the culture positive group (P < 0.001). Bacteriuria in association with either proteinuria or Pyuria > 10 Wbc/hpf had 98% specialty is diagnosis. In diagnosis UTI, Pyuria > 10 wbc/hpf was significantly more specific (82:66.6) than the conventional > 5 wbc/hpf. Isolated proteinuria, isolated pyuria, isolated bacteriuria and microscopic haematuria were not features of urinary tract infection in children. Urine culture can be more selectively done if the routine urinalysis is well interpreted. In the absence of dependable culture facilities, a routine urine examination can be reliably used in the diagnosis of UTI in children.

Currently, there is no evidence in the literature to support the routine supplementation of all parenterally fed premature infants with l-carnitine. In our study, we found that about 8.56% of extremely preterm neonates are diagnosed with carnitine deficiency secondary to malnutrition, either due to reduced stores at birth or related to total parenteral nutrition (TPN). Our two step approach of performing newborn screening (NBS) again at 32 weeks gestational age (GA) equivalent helps to diagnose 81.4% more preterm babies with carnitine deficiency-who would otherwise be missed-and supplement them with l-carnitine for optimal growth. We performed a retrospective cohort study to diagnose carnitine deficiency related to malnutrition in two groups: those presenting at birth and those presenting later in life. We found that there was a statistically significant difference in the median GA and birth weight (BW) between the two groups, but there was no difference in the free carnitine levels.

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Malonic aciduria is a rare autosomal recessive organic acid disorder. With the widespread use of tandem mass spectrometry for analysis of the amino acid/acylcarnitine profile on dried blood spots for newborn screening (NBS), this condition can be readily diagnosed and can be included in the organic acid screen in NBS programs. In Qatar, we report the first case of an asymptomatic baby screened and diagnosed with malonic aciduria through NBS. This patient has a genetic variant of malonyl-CoA decarboxylase that has not been previously reported in the literature. This condition should be differentiated from a similar disorder, combined malonic and methylmalonic aciduria. The clinical phenotype of malonic aciduria is variable and the pathophysiology is not fully understood. There is no established guidance or recommendations regarding the appropriate treatment regimen, dietary therapy or regular follow-up of these patients. Most available evidence for treatment is based on a single study or case report.

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We present an interesting case of porphria cutanea tarda with hereditary haemochromatosis and non-classical congenital adrenal hyperplasia in a postmenopausal woman. This unusual combination of conditions does not appear to be reported in the literature. The exact mechanism causing porphyria in this patient is not clear. We consider the possibility that in addition to iron accumulation and excess alcohol, altered steroid milieu may have been a possible trigger for the development of bullous lesions in this patient.