Differences Between Conventional and Newer Anthropometric Measures Among Individuals with and without Fatty Liver Disease.

A cross-sectional analysis was conducted to compare conventional and emerging anthropometric measures among male participants with and without fatty liver disease (FLD). The objective was to assess differences and diagnostic efficiency of anthropometric-parameters using receiver operating curve (ROC) analysis at Combined Military Hospital Multan, NUMS from April to October 2022. Comparison for anthropometric measurements between non-FLD (n=164) vs. FLD (n=85) indicated significant differences in weight (74.01 + 11.96 vs. 85.91 + 14.07 kg, p<0.001), waist circumference (9.38 + 9.82 vs. 101.35 + 10.74 cm, p<0.001), BMI (24.81 + 4.0 vs. 29.21 + 4.38 kg/m2, p<0.001), waist-to-hip ratio (WHpR) (0.924 + 0.054 vs. 0.971 + 0.054, p<0.001), waist-to-height ratio (WHtR) (0.508 + 0.054 vs. 0.578 + 0.062, p<0.001), and abdominal volume index (AVI) (16.17 + 3.56 vs. 20.77 + 4.61, p<0.001). Fatty liver index (FLI) also showed significant difference between non-FLD vs. FLD groups (38.35 + 27.12 vs. 72.01 + 21.31, p<0.001). AUCs for various significant anthropometric measurements from highest to lowest as 0.821 (95% CI: 0.767-0.874) for FLI, 0.815 (95% CI: 0.761-0.869) for WHtR, 0.809 (95% CI: 0.754-0.863) for AVI, and 0.808 (95% CI: 0.754-0.863) for waist circumference with lowest recorded AUC for height as 0.422 (95% CI: 0.347-0.497). Key Words: Fatty liver disease (FLD), Body mass index (BMI), A body shape index (ABSI), C-index, Abdominal volume index (AVI), Body roundness index (BRI).

A Rare Case of Propionic Acidemia in a Six Months Female Child.

Propionic Acidemia (PA) is a rare metabolic disorder caused by the defect in enzyme (propionyl-coenzyme A (CoA) carboxylase) leading to the abnormal accumulation of metabolites of branched-chain amino acid catabolism in blood and urine. We describe the first ever diagnosed case in our setup of early onset PA in a 06 months old baby girl who presented with the complaints of decreased feed intake, lethargy, vomiting, failure to thrive, and intermittent seizures. The basic laboratory investigations showed pancytopenia along with high anion gap metabolic acidosis, urine dipstick positive for ketones, and hyperammonemia. Plasma amino acid analysis by ion exchange chromatography (IEC) showed elevated plasma glycine and lysine levels. Finally, urine organic acid analysis by gas chromatography-mass spectrometry (GCMS) showed marked elevation of 3-hydroxy propionate, methyl citrate, and 3-hydroxy, 2 methylbutyric acid with moderate rise in 3-hydroxy butyric acid without an elevation of methylmalonate in urine, thus giving the diagnosis of PA. Key Words: Propionic acidemia, Propionyl-CoA Carboxylase deficiency, Gas chromatography-mass spectrometry.

Diagnosis of inherited metabolic disorders by selective metabolite testing: three years' experience at a tertiary care center in Rawalpindi.

OBJECTIVE: To determine the pattern of various inherited metabolic disorders specifically through plasma amino acid and urine organic acid testing in high-risk paediatric population.. METHODS: The cross-sectional retrospective study was conducted at the Armed Forces Institute of Pathology, Rawalpindi, Pakistan, and comprised data from April 2015 to March 2018 of children referred to the Department of Chemical Pathology and Endocrinology for work-up of suspected inherited metabolic disorders. Complete clinical history, baseline biochemical investigations, plasma amino acid and urine organic acid profiles, where indicated, were collected. Quantitative plasma amino acid and analysis was carried out by Ion Exchange Chromatography on Biochrome 30+ amino acid analyser, and urine organic acid analysis by Gas Chromatography-Mass Spectrometry. Findings were linked to the identified disorders. SPSS 21 was used for data analysis. RESULTS: Of the 805 cases reviewed, 49(6%) had an inherited metabolic disorder. Male:Female ratio of the cases was 1.5:1, and the median age was 240 days (interquartile range: 1-15695 days). The most common presenting symptom was seizures 316(39.3%) followed by lethargy 283(35.2%). Of the diagnosed cases, aminoacidopathies were 28(57%) and in them, non-ketotic hyperglycaemia accounted for 7(25%.). There were 12(24.5%) cases of organic acidurias followed by 9(18.4%) that were other than the two diagnoses. CONCLUSIONS: The cases of inherited metabolic disorder detected indicated significant prevalence. Non-ketotic hyperglycinemia was the commonest disorder diagnosed.

Dyskinesia in a Child: A Concern for a Rare Neuro-Metabolic Disorder.

A 3-year child is discussed who presented with dyskinesia, large head size, developmental delay, and recurrent infections necessitating multiple hospital admissions. The diagnosis was not made at initial presentation or even after multiple hospital admissions. An organic acidemia was suspected, based on raised ammonia and lactate levels and metabolic acidosis and the diagnosis of glutaric aciduria Type 1 was established by finding markedly elevated levels of glutaric acid and its specific metabolites on urine organic acids analysis by gas chromatography-mass spectrometry, in the setting of specific clinical features. Further supporting evidence was provided by CT scan brain showing subdural hygroma along left cerebral hemisphere causing gyral flattening and widening of sylvian fissure.