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Ofloxacin, a new quinolone for the treatment of gonorrhea

Rajakumar MK, Ngeow YF, Khor BS, Lim KF

Sex Transm Dis, 1988 1 1;15(1):25-6.
PMID: 3162781

Forty-three patients with uncomplicated gonorrhea were treated with 400 mg of ofloxacin. All had cultures negative for Neisseria gonorrhoeae at follow-up within two weeks of treatment. Minimal side effects were reported. Ofloxacin appears to be satisfactory as a single-dose oral drug for the treatment of gonococcal urethritis, including those cases caused by penicillinase-producing strains of N. gonorrhoeae.
Recent progress in cellulose nanocrystals: sources and production

Trache D, Hussin MH, Haafiz MK, Thakur VK

Nanoscale, 2017 Feb 02;9(5):1763-1786.
PMID: 28116390 DOI: 10.1039/c6nr09494e

Cellulose nanocrystals, a class of fascinating bio-based nanoscale materials, have received a tremendous amount of interest both in industry and academia owing to its unique structural features and impressive physicochemical properties such as biocompatibility, biodegradability, renewability, low density, adaptable surface chemistry, optical transparency, and improved mechanical properties. This nanomaterial is a promising candidate for applications in fields such as biomedical, pharmaceuticals, electronics, barrier films, nanocomposites, membranes, supercapacitors, etc. New resources, new extraction procedures, and new treatments are currently under development to satisfy the increasing demand of manufacturing new types of cellulose nanocrystals-based materials on an industrial scale. Therefore, this review addresses the recent progress in the production methodologies of cellulose nanocrystals, covering principal cellulose resources and the main processes used for its isolation. A critical and analytical examination of the shortcomings of various approaches employed so far is made. Additionally, structural organization of cellulose and nomenclature of cellulose nanomaterials have also been discussed for beginners in this field.
Is C1 lateral mass screw placement safe for the Chinese, Indians, and Malays? An analysis of 180 computed tomography scans

Lee CK, Tan TS, Chan C, Kwan MK

J Orthop Surg (Hong Kong), 2017 01;25(1):2309499017692683.
PMID: 28211302 DOI: 10.1177/2309499017692683

INTRODUCTION: C1 lateral mass (C1LM) screw is a common procedure in spine surgery. However, related studies are lacking in Asia. We aim to determine the safety of C1LM screw for the Chinese, Indians, and Malays.
METHODS: Three-dimensional computed tomographies of 180 subjects (60 from each ethnic) were analyzed. The length and angulations of C1LM screw and the location of internal carotid artery (ICA) in relation to C1LM were assessed and classified according to the classification by Murakami et al. The incidence of ponticulus posticus (PP) was determined and the differences among the population of these three ethnics were recorded.
RESULTS: The average base length was 8.5 ± 1.4 mm. The lengths within the lateral mass were between 14.7 ± 1.6 mm and 21.7 ± 2.3 mm. The prevalence of PP was 8.3%. 55.3% (199) of ICA were located in zone 0, 38.3% (138) in zone 1-1, 6.4% (23) in zone 1-2, and none in zone 1-3 and zone 2. The average angulation from the entry point to the ICA was 8.5° ± 6.4° laterally. The mean distance of ICA from C1 anterior cortex was 3.7 ± 1.7 mm (range: 0.6∼11.3). There was no difference in distribution of ICA in zone 1 among the three population (Chinese-47%, Indians-61%, and Malays-53%; p > 0.05).
CONCLUSIONS: No ICA is located medial to the entry point of C1LM screw. If bicortical purchase of C1LM screw is needed, screw protrusion of less than 3 mm or medially angulated is safe for ICA. The incidence of PP is 8.3% with higher prevalence among the Indian population.
Serum insulin secretion by adult Malaysians

Jones JJ, Aimlt PP, Owyong LY, Kutty MK

Med J Malaysia, 1976 Jun;30(4):285-6.
PMID: 979729
Dubin-Sprinz disease

Dutt AK, Gill SS, Kutty MK, Omar-Ahmad U

Med J Malaya, 1968 Sep;23(1):2-4.
PMID: 4237552
Characterisation of maternal human leukocyte antigen class I antibodies in suspected foetal and neonatal alloimmune thrombocytopenia

Refsum E, Mörtberg A, Dahl J, Meinke S, Auvinen MK, Westgren M, et al.

Transfus Med, 2017 Feb;27(1):43-51.
PMID: 27862486 DOI: 10.1111/tme.12375

OBJECTIVES: To investigate the specificities and level of HLA class I antibodies in selected cases referred for suspected foetal and neonatal alloimmune thrombocytopenia (FNAIT).
BACKGROUND: FNAIT occurs in 1 : 1-2000 live births, whereas maternal immunisation against human leukocyte antigen (HLA) class I is common. Whether HLA class I antibodies alone can cause FNAIT is debatable.
MATERIAL AND METHODS: A total of 260 patient samples were referred between 2007 and 2012. Referrals with maternal HLA class I antibodies and no other cause for the neonatal thrombocytopenia were included for analysis (cases, n = 23). HPA-1a negative mothers were excluded. Control groups were screened positive mothers of healthy neonates (controls, n = 33) and female blood donors (blood donors, n = 19). LABScreen single antigen HLA class I beads was used for antibody analysis. Clinical records were reviewed for cases.
RESULTS: All groups had broad antibody reactivity. Cases had more antibodies with high SFI levels compared with the controls (SFI>9999; medians 26, 6 and 0; P
Detection of amplified int-2/FGF-3 gene in primary breast carcinomas using differential polymerase chain reaction

Naidu R, Wahab NA, Yadav M, Kutty MK, Nair S

Int J Mol Med, 2001 Aug;8(2):193-8.
PMID: 11445874

Amplification of int-2/FGF-3 gene was investigated by differential polymerase chain reaction (dPCR) in 440 archival primary breast carcinoma tissues. Of these, 23 were comedo ductal carcinoma in situ (DCIS), 18 were non-comedo DCIS, 41 were comedo DCIS with adjacent invasive ductal carcinomas, 19 were non-comedo DCIS with adjacent invasive ductal carcinomas, 270 were invasive ductal carcinomas, 33 were invasive lobular carcinomas, 21 were colloid carcinomas and 15 were medullary carcinomas. Int-2 was amplified in 22% (96/440) of the primary breast carcinomas. It was shown that int-2 was amplified in 13% (3/23) of the comedo DCIS, 17% (7/41) of the comedo DCIS and 29% (12/41) of the adjacent invasive ductal carcinomas, 26% (71/270) of the invasive ductal carcinomas, 18% (6/33) of the invasive lobular carcinomas, 10% (2/21) of the colloid carcinomas and 13% (2/15) of the medullary carcinomas. In contrast, int-2 was not amplified in non-comedo DCIS and invasive ductal carcinomas with adjacent non-comedo DCIS lesions. A significant association was observed between int-2 amplification in the in situ components and adjacent invasive lesion (P<0.05). All tumors with int-2 amplification in the in situ lesions (7/7) also demonstrated same degree of amplification in the adjacent invasive components. However, 9% (5/53) of the tumors with no amplified int-2 gene in the in situ components showed int-2 amplification in the adjacent invasive lesions. A significant relationship was noted between amplification of int-2 and lymph node metastases (P<0.05) and poorly differentiated tumors (P<0.05) but not with estrogen receptor status (P>0.05) and proliferation index (Ki-67 and PCNA) (P>0.05). In Malaysia, majority of the patients belong to younger age group (<50 years old) but a comparison of the age groups showed that the amplification of int-2 was not statistically associated with patient age (P>0.05). These observations indicate that amplification of int-2 tends to strengthen the view that int-2 may have the potential to be an indicator of poor prognosis regardless of the age of the patient. Moreover, the presence of int-2 amplification in preinvasive, preinvasive and adjacent invasive lesions, and invasive carcinomas suggest that int-2 could be a marker of genetic instability occurring in early and late stages of tumor development.
Quality of life in breast cancer patients: validation of a FACT-B Malayalam version

Pandey M, Thomas BC, Ramdas K, Eremenco S, Nair MK

Qual Life Res, 2002 Mar;11(2):87-90.
PMID: 12018741

BACKGROUND: Recent advances in diagnosis and treatment of cancer have led to an increase in cancer survival, and hence, there is a greater emphasis on quality beside quantity of survival. Developing countries too have begun to recognize the need for monitoring quality of life (QOL). However, in most of the developing countries, a validated and reliable tool for the purpose is yet to be realized.
MATERIAL AND METHOD: The functional assessment of chronic illness therapy (FACIT) system is a collection of QOL questionnaires targeted to measure QOL in chronic illness. The functional assessment of cancer therapy for breast cancer (FACT-B) was translated into the local language (Malayalam) and tested for validity and reliability.
RESULTS: The tool thus developed showed substantial sensitivity, as does the source tool. The Cronbach's alpha for the total FACT-B was 0.87, which is similar to the alpha of 0.9 observed in the FACT-B English version. The mean FACT-B score was 94.3 compared to 112.8 for the source tool.
CONCLUSION: The Malayalam translation of the FACT-B questionnaire was developed, tested and validated, and was found satisfactory in comparison to the source tool.
Optimisation of Reactive Black 5 dye removal by electrocoagulation process using response surface methodology

Mook WT, Aroua MK, Szlachta M, Lee CS

Water Sci Technol, 2017 02;75(3-4):952-962.
PMID: 28234295 DOI: 10.2166/wst.2016.563

In this work, a regression model obtained from response surface methodology (RSM) was proposed for the electrocoagulation (EC) treatment of textile wastewater. The Reactive Black 5 dye (RB5) was used as a model dye to evaluate the performance of the model design. The effect of initial solution pH, applied current and treatment time on RB5 removal was investigated. The total number of experiments designed by RSM amounted to 27 runs, including three repeated experimental runs at the central point. The accuracy of the model was evaluated by the F-test, coefficient of determination (R(2)), adjusted R(2) and standard deviation. The optimum conditions for RB5 removal were as follows: initial pH of 6.63, current of 0.075 A, electrolyte dose of 0.11 g/L and EC time of 50.3 min. The predicted RB5 removal was 83.3% and the percentage error between experimental and predicted results was only 3-5%. The obtained data confirm that the proposed model can be used for accurate prediction of RB5 removal. The value of the zeta potential increased with treatment time, and the X-ray diffraction pattern shows that iron complexes were found in the sludge.
Fulltext Early Clinical Outcomes of Short versus Long Proximal Femoral Nail Anti-rotation (PFNA) in the Treatment of Intertrochanteric Fractures

Loh J, Huang D, Lei J, Yeo W, Wong MK

Malays Orthop J, 2021 Jul;15(2):115-121.
PMID: 34429831 DOI: 10.5704/MOJ.2107.017

INTRODUCTION: Both short and long PFNA are employed to treat intertrochanteric fractures. Controversy exists in the choice between the two nails as each implant has specific characteristics and theoretical advantages. This retrospective study seeks to examine the operative complication rates and clinical outcomes of short versus long (Proximal Femoral Nail Antirotation) PFNA in the treatment of intertrochanteric fractures.
MATERIAL AND METHODS: Between July 2011 and February 2015, 155 patients underwent PFNA insertion. The decision on whether to use a short or long PFNA nail, locked or unlocked, was determined by the attending operating surgeon. Visual Analogue Pain Score (VAS) Harris Hip Scores (HHS), Short-form 36 Health Questionnaire (SF-36) and Parker Mobility Scores (PMS) were collected at six weeks, six months and one year post-operatively.
RESULTS: A total of 137 (88.4%) patients were successfully followed-up. Forty-two (30.7%) patients received a short PFNA. The patients were similar in baseline characteristics of age, gender, and comorbidities. Operative time was significantly longer in the short PFNA group (62 ±17 mins) versus the long PFNA group (56±17). While the patients in both groups achieved improvement in all outcome measures, there was no significant difference between the groups in terms of HHS (61.0 ±16.0 vs 63.0 ±16.8, p=0.443), PMS (2.3±1.5 vs 2.7±2.1, p=0.545) and VAS (1.7±2.9 vs 1.8 ±2.2 p=0.454). There were 3 (7.1%) and 7 (7.4%) complications in the short versus long PFNA group, respectively.
CONCLUSION: Both short and long PFNA had similar clinical outcomes and complication rates in the treatment of intertrochanteric fractures in an Asian population.
Strength characteristics of aerobic granular sludge

Nor-Anuar A, Ujang Z, van Loosdrecht MC, de Kreuk MK, Olsson G

Water Sci Technol, 2012;65(2):309-16.
PMID: 22233910 DOI: 10.2166/wst.2012.837

Aerobic granular sludge has a number of advantages over conventional activated sludge flocs, such as cohesive and strong matrix, fast settling characteristic, high biomass retention and ability to withstand high organic loadings, all aspects leading towards a compact reactor system. Still there are very few studies on the strength of aerobic granules. A procedure that has been used previously for anaerobic granular sludge strength analysis was adapted and used in this study. A new coefficient was introduced, called a stability coefficient (S), to quantify the strength of the aerobic granules. Indicators were also developed based on the strength analysis results, in order to categorize aerobic granules into three levels of strength, i.e. very strong (very stable), strong (stable) and not strong (not stable). The results indicated that aerobic granules grown on acetate were stronger (high density: >150 g T SSL(-1) and low S value: 5%) than granules developed on sewage as influent. A lower value of S indicates a higher stability of the granules.
Isolation and characterization of microcrystalline cellulose from oil palm biomass residue

Mohamad Haafiz MK, Eichhorn SJ, Hassan A, Jawaid M

Carbohydr Polym, 2013 Apr 2;93(2):628-34.
PMID: 23499105 DOI: 10.1016/j.carbpol.2013.01.035

In this work, we successfully isolated microcrystalline cellulose (MCC) from oil palm empty fruit bunch (OPEFB) fiber-total chlorine free (TCF) pulp using acid hydrolysis method. TCF pulp bleaching carried out using an oxygen-ozone-hydrogen peroxide bleaching sequence. Fourier transform infrared (FT-IR) spectroscopy indicates that acid hydrolysis does not affect the chemical structure of the cellulosic fragments. The morphology of the hydrolyzed MCC was investigated using scanning electron microscopy (SEM), showing a compact structure and a rough surface. Furthermore, atomic force microscopy (AFM) image of the surface indicates the presence of spherical features. X-ray diffraction (XRD) shows that the MCC produced is a cellulose-I polymorph, with 87% crystallinity. The MCC obtained from OPEFB-pulp is shown to have a good thermal stability. The potential for a range of applications such as green nano biocomposites reinforced with this form of MCC and pharmaceutical tableting material is discussed.
Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation

Thong MK, Fietz M, Nicholls C, Lee MH, Asma O

J Inherit Metab Dis, 2009 Dec;32 Suppl 1:S41-4.
PMID: 19165618 DOI: 10.1007/s10545-009-1031-1

There are few reports of congenital disorders of glycosylation (CDGs) in the Asian population, although they have been reported worldwide. We identified a Malaysian infant female at 2 days of life with CDG type Ia. The diagnosis was suspected on the basis of inverted nipples and abnormal fat distribution. She had cerebellar hypoplasia and developed coagulopathy, hypothyroidism and severe pericardial effusion and died at 7 months of life. The diagnosis was supported by abnormal serum transferrin isoform pattern that showed elevated levels of the disialotransferrin isoform and trace levels of the asialotransferrin isoform. Enzyme testing of peripheral leukocytes showed decreased level of phosphomannomutase (PMM) activity (0.6 nmol/min per mg protein, normal range 1.6-6.2) and a normal level of phosphomannose isomerase activity (19 nmol/min per mg protein, normal range 12-25), indicating a diagnosis of CDG type Ia. Mutation study of the PMM2 gene showed the patient was heterozygous for both the common p.R141H (c.422T>A) mutation and a novel sequence change in exon 7, c.618C>A. The latter change is predicted to result in the replacement of the highly conserved phenylalanine residue at position 206 with a leucine residue (p.F206L) and occurs in the same codon as the previously reported p.F206S mutation. Analysis of 100 control chromosomes has shown that the p.F206L sequence change is not present, making it highly likely that this change is functionally important. To the best of our knowledge, this is the first report of CDG in the Malay population. Prenatal diagnosis was successfully performed in a subsequent pregnancy for this family.
Involvement of AT(1) angiotensin receptors in the vasomodulatory effect of des-aspartate-angiotensin I in the rat renal vasculature

Dharmani M, Mustafa MR, Achike FI, Sim MK

Peptides, 2008 Oct;29(10):1773-80.
PMID: 18603328 DOI: 10.1016/j.peptides.2008.05.017

Angiotensin II is known to act primarily on the angiotensin AT(1) receptors to mediate its physiological and pathological actions. Des-aspartate-angiotensin I (DAA-I) is a bioactive angiotensin peptide and have been shown to have contrasting vascular actions to angiotensin II. Previous work in this laboratory has demonstrated an overwhelming vasodepressor modulation on angiotensin II-induced vasoconstriction by DAA-I. The present study investigated the involvement of the AT(1) receptor in the actions of DAA-I on angiotensin II-induced vascular actions in the renal vasculature of normotensive Wistar-Kyoto rats (WKY), spontaneously hypertensive rats (SHR) and streptozotocin (STZ)-induced diabetic rats. The findings revealed that the angiotensin receptor in rat kidney homogenate was mainly of the AT(1) subtype. The AT(1) receptor density was significantly higher in the kidney of the SHR. The increase in AT(1) receptor density was also confirmed by RT-PCR and Western blot analysis. In contrast, AT(1) receptor density was significantly reduced in the kidney of the streptozotocin-induced diabetic rat. Perfusion with 10(-9)M DAA-I reduced the AT(1) receptor density in the kidneys of WKY and SHR rats suggesting that the previously observed vasodepressor modulation of the nonapeptide could be due to down-regulation or internalization of AT(1) receptors. RT-PCR and Western blot analysis showed no significant changes in the content of AT(1) receptor mRNA and protein. This supports the suggestion that DAA-I causes internalization of AT(1) receptors. In the streptozotocin-induced diabetic rat, no significant changes in renal AT(1) receptor density and expression were seen when its kidneys were similarly perfused with DAA-I.
Fulltext Comparison of detection of glucose-6-phosphate dehydrogenase deficiency using fluorescent spot test, enzyme assay and molecular method for prediction of severe neonatal hyperbilirubinaemia

Wang FL, Boo NY, Ainoon O, Wong MK

Singapore Med J, 2009 Jan;50(1):62-7.
PMID: 19224086

INTRODUCTION:
This study aimed to compare the detection rates of glucose-6-phosphate dehydrogenase (G6PD) deficiency in neonates by fluorescent spot test (FST), enzyme assay and molecular methods, and to identify which method was a significant predictor of severe hyperbilirubinaemia.
METHODS:
74 term infants of Chinese descent admitted with severe hyperbilirubinaemia (total serum bilirubin equal or greater than 300 micromol/L) and 125 healthy term infants born in the hospital without severe hyperbilirubinaemia were recruited into the study. Specimens of blood were collected from each infant for FST, G6PD enzyme assay and TaqMan minor groove binder single nucleotide polymorphism genotyping assay.
RESULTS:
26 (13.1 percent) infants were diagnosed to have G6PD deficiency by FST. They had significantly lower median enzyme levels (0.8 IU/g Hb, interquartile range [IQR] 0.4-4.3) than those diagnosed to be normal (12.0 IU/g Hb, IQR 10.3-15.8) (p-value is less than 0.0001). Based on the enzyme assay, 39 (19.6 percent) infants had G6PD deficiency at an enzyme cut-off level of less than 8.5 IU/g Hb. G6PD mutation was detected in 27 (13.6 percent) infants. Logistic regression analysis showed that the only significant predictors of severe hyperbilirubinaemia were G6PD deficiency based on a cut-off level of less than 8.5 IU/g Hb (adjusted odds ratio [OR] 5.3, 95 percent confidence interval [CI] 2.4-11.4; p-value is less than 0.0001) and exclusive breast-feeding (adjusted OR 11.4, 95 percent CI 3.1-42.4; p-value is less than 0.0001). The gender and birth weight of infants, FST results, G6PD mutation and the actual G6PD enzyme levels were not significant predictors.
CONCLUSION:
A G6PD enzyme level of less than 8.5 IU/g Hb is a significant predictor of severe hyperbilirubinaemia
Fulltext Functioning adrenal adenoma in association with congenital adrenal hyperplasia

Rohana AG, Ming W, Norlela S, Norazmi MK

Med J Malaysia, 2007 Jun;62(2):158-9.
PMID: 18705452 MyJurnal

We report a case of a young hypertensive male who was first seen in 1998 with a right thalamic haemorrhage and uncontrolled hypertension. CT abdomen showed a right adrenal tumour and a hyperplastic left adrenal gland. Laparoscopic adrenalectomy performed followed by histopathological examination confirmed the diagnosis of adrenal adenoma. He subsequently presented to us again a year later with persistent hyperkalaemia and asymptomatic hyponatraemia. Further investigations strongly suggested the presence of isolated mineralocorticoid deficiency with normal cortisol levels. This was confirmed to be due to partial or late-onset congenital adrenal hyperplasia (CAH). We discuss the association of partial CAH and adrenal tumours and the unmasking of the mineralocorticoid deficiency following adrenalectomy.
U-shaped sacral fracture: an easily missed fracture with high morbidity. A report of two cases

Hussin P, Chan CY, Saw LB, Kwan MK

Emerg Med J, 2009 Sep;26(9):677-8.
PMID: 19700594 DOI: 10.1136/emj.2008.064972

U-shaped sacral fracture is a very rare injury. This injury is easily missed and the diagnosis is often delayed as it is difficult to detect on the anteroposterior view of the pelvic radiograph. It is highly unstable and neurological injury is common. Two cases of U-shaped sacral fractures are reported here in which the diagnosis was delayed resulting in the late development of cauda equina syndrome. In these two cases, full recoveries were achieved following surgical decompression. A high index of suspicion with proper clinical and radiographic assessments will decrease the incidence of missed diagnosis and prevent the occurrence of delayed neurological deficits.
Fulltext Awareness and knowledge on eye donation among university students

Bharti MK, Reddy SC, Tajunisah I, Ali NA

Med J Malaysia, 2009 Mar;64(1):41-5.
PMID: 19852320 MyJurnal

Four hundred (400) students studying first year Medicine, Dentistry, Laboratory Technology, Pharmacy, Biomedicine and Bioengineering degree courses in the University of Malaya were assessed on their awareness and knowledge on eye donation using an open ended questionnaire. The majority of the students (344, 86%) in this study were aware about eye donation; the awareness was higher in biomedical (77.1%) and medical students (76.7%) compared to the others (55.9%-70.7%). One hundred and eight students (27%) were willing to donate their eyes. Most of the students (376, 94%) did not know about any eye bank in Malaysia. One hundred and sixty (40%) students were aware that whole eye can be removed from the donor and 101 (25.25%) were aware that the cornea can be removed separately. However, only 121 (30.25%) knew that donated eyes were used for corneal grafting. More than half of the students (231, 57.7%) did not know that the donor eye could be stored before transplantation. The results of this study indicate that there is a need to educate the young adults in our society about corneal transplantation so that they can in turn motivate other members of society and their own family members to become eye donors, thus facilitating the availability of donor corneas for corneal transplantation in Malaysia.
Mutational analysis of CYP2C8 in hypertensive patients using denaturing high performance liquid chromatography

Teh LK, Zahri MK, Zakaria ZA, Ismail R, Salleh MZ

J Clin Pharm Ther, 2010 Dec;35(6):723-8.
PMID: 21054465 DOI: 10.1111/j.1365-2710.2009.01146.x

CYP2C8 is involved in the cytochrome P450 (CYP) epoxygenase pathway. Arachidonic acid metabolites such as epoxyeicosatrienenoic acids and hydroxyeicosatetrenoic acids, produced may have a role in hypertension. We aimed to develop a medium through-put method for screening samples of known and new mutations of CYP2C8 using denaturing high performance liquid chromatography (DHPLC).
Fulltext Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life

Thong MK, Boey CC, Sheng JS, Ushikai M, Kobayashi K

Singapore Med J, 2010 Jan;51(1):e12-4.
PMID: 20200759

We report two Malaysian siblings with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The younger sibling, a six-month-old Chinese girl, presented with prolonged neonatal jaundice, and was investigated for biliary atresia. Urine metabolic screen showed the presence of urinary-reducing sugars, and she was treated with a lactose-free formula. NICCD was suspected based on the clinical history, examination and presence of urinary citrulline. Mutation study of the SLC25A13 gene showed the compound heterozygotes, 851del4 and IVS16ins3kb, which confirmed the diagnosis of NICCD in the patient and her three-year-old female sibling, who also had unexplained neonatal cholestasis. Long-term dietary advice, medical surveillance and genetic counselling were provided to the family. The diagnosis of NICCD should be considered in infants with unexplained prolonged jaundice. DNA-based genetic testing of the SLC25A13 gene may be performed to confirm the diagnosis retrospectively. An awareness of this condition may help in early diagnosis using appropriate metabolic and biochemical investigations, thus avoiding invasive investigations in infants with neonatal cholestasis caused by NICCD.

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