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Vitamins A, D, E and K are fat-soluble vitamins that play a crucial role in the metabolism and homeostasis in the human body. Differences in methods used to measure vitamins can lead to variations between laboratories, making it difficult to establish universally agreed reference intervals. Using robust and reliable harmonised methods helps clinicians and Healthcare Scientists to improve the diagnosis and monitoring of vitamin deficiencies and toxicity. Immunoassay and high-performance liquid chromatography (HPLC) methods have been traditionally used to measure vitamins. However, liquid chromatography tandem mass spectrometry (LC-MS/MS) is increasingly utilised for its improved selectivity and accuracy when using isotopic internal standards. In this review, we will summarise analytical and clinical aspects of fat-soluble vitamins.

From late 2014 multiple atolls in Kiribati reported an unusual and sometimes fatal illness. We conducted an investigation to identify the etiology of the outbreak on the most severely affected atoll, Kuria, and identified thiamine deficiency disease as the cause. Thiamine deficiency disease has not been reported in the Pacific islands for >5 decades. We present the epidemiological, clinical, and laboratory findings of the investigation. We initially conducted detailed interviews and examinations on previously identified cases to characterize the unknown illness and develop a case definition. Active and passive surveillance was then conducted to identify additional cases. A questionnaire to identify potential risk factors and blood samples to assay biochemical indices were collected from cases and asymptomatic controls. Thiamine hydrochloride treatment was implemented and the response to treatment was systematically monitored using a five-point visual analogue scale and by assessing resolution of previously abnormal neurological examination findings. Risk factors and biochemical results were assessed by univariate and multivariate analyses. 69 cases were identified on Kuria (7% attack rate) including 34 confirmed and 35 unconfirmed. Most were adults (median age 28 years [range 0-62]) and 83% were male. Seven adult males and two infants died (13% case fatality rate). Resolution of objective clinical signs (78%) or symptoms (94%) were identified within one week of starting treatment. Risk factors included having a friend with thiamine deficiency disease and drinking kava; drinking yeast alcohol reduced the risk of disease. Higher chromium (p<0·001) but not thiamine deficiency (p = 0·66) or other biochemical indices were associated with disease by univariate analyses. Chromium (p<0·001) and thiamine deficiency (p = 0·02) were associated with disease by multivariate analysis. An outbreak of thiamine deficiency disease (beriberi) in Kiribati signals the re-emergence of a classic nutritional disease in the Pacific islands after five decades. Although treatment is safe and effective, the underlying reason for the re-emergence remains unknown. Chromium was highly and positively correlated with disease in this study raising questions about the potential role of factors other than thiamine in the biochemistry and pathophysiology of clinical disease.

Vitamins are essential nutrients that are classified into two groups, fat soluble vitamins (FSVs) and water-soluble vitamins (WSV). WSVs include thiamine (B1), riboflavin (B2), niacin (B3), pantothenic acid (B5), pyridoxal phosphate (B6), biotin (B7), folate (or folic acid) (B9), cobalamin (B12), and ascorbic acid (C). Although deficiency of WSVs is uncommon, it can still be seen among individuals with different disorders such as short bowel syndrome, chronic alcoholism, and malnourished or post bariatric surgery patients. Despite the use of advanced technologies such as chromatography and mass spectrometry to measure vitamins, there is a need for more consistent standardisation and reference intervals. Covariates such as requirement for sample collection, fasting and avoiding supplementation, require more work to assess their effects in the interpretation of vitamin results. The aim of this review is to highlight pre-analytical factors such as fasting and cessation of supplementation before sampling. There are no comprehensive guidelines found in the literature describing how long vitamin supplementation should be ceased before sampling, and further studies are warranted.

The array of symptoms attributed to King George III have been presented as meeting the WHO International Classification of Diseases, 10th Revision, criteria for type 1 bipolar affective disorder with mood-congruent delusions, consistent with previous reports of manic depressive psychosis and with subsequent Alzheimer-type dementia, rather than acute porphyria (1, 2 ).

We conclude, therefore, that these green \"stones\" resulted from the action of gastric Upases on the simple and mixed triacylglycerols that make up olive oil, yielding long chain carboxylic acids (mainly oleic acid). This process was followed by saponification into large insoluble micelles of potassium carboxylates (lemon juice contains a high concentration of potassium) or \"soap stones\". The cholesterol stones noted on ultrasound were removed by surgery (figure).

Describes a case of macroenzyme aspartate aminotransferase (macro-AST) in a patient with probable seronegative rheumatoid arthritis, supported by low post-polyethylene glycol (PEG) recovery of AST, and substantial exclusion of muscular- or liver-related causes of AST elevation. Source: National Library of New Zealand Te Puna Matauranga o Aotearoa, licensed by the Department of Internal Affairs for re-use under the Creative Commons Attribution 3.0 New Zealand Licence.

From late 2014 multiple atolls in Kiribati reported an unusual and sometimes fatal illness. We conducted an investigation to identify the etiology of the outbreak on the most severely affected atoll, Kuria, and identified thiamine deficiency disease as the cause. Thiamine deficiency disease has not been reported in the Pacific islands for >5 decades. We present the epidemiological, clinical, and laboratory findings of the investigation. We initially conducted detailed interviews and examinations on previously identified cases to characterize the unknown illness and develop a case definition. Active and passive surveillance was then conducted to identify additional cases. A questionnaire to identify potential risk factors and blood samples to assay biochemical indices were collected from cases and asymptomatic controls. Thiamine hydrochloride treatment was implemented and the response to treatment was systematically monitored using a five-point visual analogue scale and by assessing resolution of previously abnormal neurological examination findings. Risk factors and biochemical results were assessed by univariate and multivariate analyses. 69 cases were identified on Kuria (7% attack rate) including 34 confirmed and 35 unconfirmed. Most were adults (median age 28 years [range 0-62]) and 83% were male. Seven adult males and two infants died (13% case fatality rate). Resolution of objective clinical signs (78%) or symptoms (94%) were identified within one week of starting treatment. Risk factors included having a friend with thiamine deficiency disease and drinking kava; drinking yeast alcohol reduced the risk of disease. Higher chromium (p<0·001) but not thiamine deficiency (p = 0·66) or other biochemical indices were associated with disease by univariate analyses. Chromium (p<0·001) and thiamine deficiency (p = 0·02) were associated with disease by multivariate analysis. An outbreak of thiamine deficiency disease (beriberi) in Kiribati signals the re-emergence of a classic nutritional disease in the Pacific islands after five decades. Although treatment is safe and effective, the underlying reason for the re-emergence remains unknown. Chromium was highly and positively correlated with disease in this study raising questions about the potential role of factors other than thiamine in the biochemistry and pathophysiology of clinical disease.

Establishes an assay service for thiopurine methyl transferase (TPMT) activity in order to facilitate dose initiation of thiopurine drug therapy and to define appropriate reference intervals and optimal cut-offs for the NZ population. Subjects 407 patients to radio-enzymatic assay testing of TPMT activity prior to initiation of thiopurine drug therapy. Performs genotyping for the abnormal *2, *3A, and *3C alleles in those with low activity. Source: National Library of New Zealand Te Puna Matauranga o Aotearoa, licensed by the Department of Internal Affairs for re-use under the Creative Commons Attribution 3.0 New Zealand Licence.

Describes the various presentations of porphyria and introduces screening for latent porphyria by fluorescence-emission scanning of plasma and by mutational analysis. Highlights several cases of the less common types of porphyria recently diagnosed by the authors' reference laboratory using these methods. Provides background information on the different clinical types of porphyria with some explanation of the diagnostic tests available. Source: National Library of New Zealand Te Puna Matauranga o Aotearoa, licensed by the Department of Internal Affairs for re-use under the Creative Commons Attribution 3.0 New Zealand Licence.

The porphyrias are a group of inborn or acquired disorders of haem synthesis that can result in neurovisceral or dermatological symptoms. Diagnosis is usually made using a combination of clinical presentation and biochemical parameters. This case report describes a 25-year-old woman clinically presenting with a rash and then found to have elevated porphobilinogen concentrations in her urine. The initial presumptive diagnosis of variegate porphyria was not supported by analysis of her plasma, urine and faeces, which suggested a combination of acute intermittent porphyria and porphyria cutanea tarda. Sequencing of the hydroxymethylbilane synthase and uroporphyrinogen decarboxylase genes confirmed the relatively rare diagnosis of dual porphyria, and revealed a novel uroporphyrinogen decarboxylase mutation.