24, J, Nureimionat Disorvers CASE sruoy a // A 3-year old fe child had stunted growth, ‘edema (particularly on legs and hands) discoloration of skin and hair, apathy and moon-face. She also bhad frequent respiratory infections and diarthea. On enquiring, the mother informed the physician that the child was mostly breastfed until 2 years of age, and for the past one year she was being given dilute buffalo milk and a small quantities of rice with ghee and dhal. The following are the laboratory data of the child Hemoglobin 79M 1244 gid ‘Serum proteins (total) 4 gid! 68 gd ‘Serum abun 294 345 gid ‘Serum potassium 28 mEq 35-45 mEq Diagnosis and discussion “The clinical manifestations and the nutritional history, supported by the laboratory data clearly indicate that the child was suffering from Jewashiorkor, a predominant nutritional disorder, in the developing countries. Edema occurred due to lack of adequate serum proteins to maintain, water distribution between blood and tissues. The immunological response of the child to infections was very low. Deficiency of serum K+ was observed due to diarrhea, CASE STUDY 2 A one year oltmale baby had growth retardation, reduced physical activity, muscle wasting (emaciation), loose folds of skin wrapped over bones, The mother of the child, now in third month of gestation, informed the physician that she had been e Studies with Biochemical — Correlations LN yetitelh vl plving the child rice gruel, along with breast milk. The laboratory data of the child are given hereunder. Hemoglobin T 9 1244 gid ‘Serum proteins (ota) 6 gf 68 gi ‘Serum abun 39 345 gil Serum potassium 85 mEqt___ 9.55, mEd/t Diagnosis and discussion The child Was suffering from marasmus, a nutritional disorder, predominantly due to the deficiency of calories, Marasmus mostly occurs in children less than one year of age. It can be distinguished from Jowashiorkor (Case_1 of edema and almost ui serum albumin level. CASE STUDY 3 A 12-year old B6y had difficulty to see in dim light (evenings and while he enters cine theatres). His plasma retinol level was very low. Diagnosis and discussion This is a case of night blindness (nyctalopia) due to vitamin A deficiency. Since vitamin A is closely associated with dim light vision, its deficiency causes prolonged dark adaptation time. Severe deficiency of vitamin A leads to dryness of conjunctiva and cornea (xerophthalmia) and the occurrence of triangular plaques known as Bitot’s spots. CASE er A 6-year old had bone deformities such as bow legs and pigeon chest. He had a history of delayed eruption of teeth. On enquiring, the mother informed the physician that the boy had been on a strict vegetarian diet with low intake of milk as well as fats and oils, The following are the laboratory findings of this boy. 738Appendix VI: CASE STUDIES WITH BIOCHEMICAL CORRELATIONS Casum 81 moll 8H1T mois Phosphate 25 mod 9.45 mpl ‘Akane phosphatase 900 UN 150-100 UN a5Hyeray viamin 10 ngtnl 26-50 nginl Diagnosis and discussion This case is classical example of rickets due to vitamin D deficiency. As a result of low serum calcitriol @he biochemically active form of vitamin D), calcium and phosphate levels are not maintained in the circulation, hence mineralization is impaired, uimately causing bone deformities such as bow legs. Serum alkaline phosphatase is elevated in rickets ina ain attempt to result in bone formation CASE sTuDY 5 A 25-year old oman had been in the habit of eating freeze-stored vegetables and fruits for over 2 years. She developed the symptoms of spongy and sore gums, swollen joints. She used to have frequent infections (common cold and respiratory ‘tact infections) and observed delay in the healing of her wounds. She was mildly anaemic (hemoglobin 10 gidl against normal 12-14 g/dl). Her friend, who happened to be a nutritionist, advised her to eat fresh fruits and vegetables, besides the supplementation of vitamin C. The situation improved in about 3 months. Diagnosis and discussion The manifestations described along with the response of the woman to vitamin C supplementation clearly point that the woman was suffering from scurvy, a vitamin C deficiency nutritional disorder. This is observed in people who do not eat vitamin C fich foods and/or fresh fruits and vegetables. Vitamin C {ascorbic ticipates_in the synthesis of collagen, besides iS THOWGROH ar ab STTORTETRS The smplame obeened Tp tae are aoe impairment in these two functions. CASE STUDY, ‘A.40-year old alcoholic man had the symptoms ‘of mental confusion, loss of memory, rhythmical to and fro motion of eye balls. Enquiries revealed that he had not been taking diet with sufficient quantities of vitamins to meet his body demands. From the analysis of the cultured fibroblasts, the man was found to have the enzyme transketolase with much reduced affinity for thiamine pyrophosphate. 739 Diagnosis and discu This Isa case of Wernleke-Korsakoff syndrome due to the deficiency of thiamine (vitamin 83). It is, predominantly observed in alcoholics consuming a thlamine-deficlent diet, The transketolase enzyme of hexose monophosphate shunt is mainly affected. CASE STUDY, 7 ‘A 55-year old woman, a patient of tuberculosis, was given the drug isoniazid (isonicotinic acid hydrazide, INH). At the end of the treatment regime, she developed neurological manifestations such as depression, irritability, nervousness and mental confusion. Her urine contained increased concentration of xanthurenic acid. Diagnosis and discussion The drug isoniazid combines with pyridoxal phosphate (PLP), the coenzyme of vitamin Bg, to form inactive hydrazone derivatives which inhibit PLP dependent enzymes. The elevated excretion of xanthurenic acid indicates a blockade in tryptophan facie ee on in hea ‘ynureninase). This case is an example of drug induced vitamin Bg deficiency. Itis therefore, advised that for patients of tuberculosis, treatment with isoniazid should be accompanied by vitamin Bg supplementation. CASE STUDY, A 23-year old woman with 3 children had the complaints of weakness and lethargy. Her hemoglobin level was 7 g/dl (normal 12-14 gid). Her blood was found to contain large abnormal immature erythrocytes. This woman had a highly elevated excretion of formiminoglutamate (FIGLU), a metabolite of histidine, in urine. Diagnosis and discussion Elevated excretion of FIGLU in urine indicates that the woman was suffering from folate deficiency, the most common vitamin deficiency observed in developing countries. Deficiency of folate results in macrocytic anemia with abnormally large erythrocytes. Due to a block In DNA synthesis, the ‘maturation of RBC is slowed down leading to the increase in their size. CASE STUDY 9 ‘A 25-year old strict vegetarian woman, with a very low consumption of milk products, was found740 to be anemic (hemoglobin 7 g/dl against normal 12-14 g/dl). She was lethargic and had the ‘complaints of numbness and tingling of fingers and toes. Her urine had an elevated excretion of methylmalonate, Diagnosis and discussion The strict vegetarians of low socioeconomic ¢group in the developing countries are susceptible to anemia. In the case described above, the woman had low hemoglobin level along with an increased urinary excretion of methylmalonate. The latter character is prominent feature of vitamin By2 deficiency. CASE STUDY 10 ‘A 25-year old strict vegetarian woman, with two children aged 5 years and 3 years, complained of tiredness and appeared pale, In the recent few months, the woman had heavy and prolonged menstrual flow. Enquiries revealed that her consumption of milk and milk products was reasonably good, but leafy vegetables was low. The laboratory investigations showed that the woman's hematocrit was 28% (reference range 40% to 50%), while her hemoglobin concentration was 8 g/dl (reference range 12-14 g/dl) Diagnosis and discussion The woman with a low hemoglobin concentration and reduced hematocrit depicts a very common nutritional disorder — iron deficiency anemia. A strict vegetarian diet coupled with low consumption of leafy vegetables led her to iron deficiency. CASE sTupyY 11 A 20-year old medical student had a delicious dinner with mushroom dishes in a Chinese restaurant. The next day morning, he was admitted in a hospital with abdominal cramps, vomiting and diarrhea. Diagnosis and discussion This appears to be a case of food:-poisoning, caused by a dangerous species of mushroom (most probably Amanita phalloides). The toxicity is due to toxin «-amanitin which is not inactivated by cooking. a-Amanitin is a cyclic octapeptide and it strongly inhibits RNA polymerase II and thus transcription (synthesis of RNA). BIOCHEMISTRY TI. Merasouic Diseases/Insorn Errors CASE STUDY 12 ‘A boy, aged 12 years was given treatment for prolonged diarrhea. After improvement, he complained abdominal discomfort and diarrhea with 2 feeling of being bloated, after consumption of milk. He was taken to a physician who advised him to stop his intake of milk. He felt better in 3 days. Diagnosis and discussion The boy was suffering from acquired lactose intolerance. This was precipitated by diarrhea where the intestinal mucosal cells were denuded faster. The brush border of the intestine houses the enzyme lactase which is lost due to diarrhea, and hence typical symptoms of flatulence. CASE STUDY 13 normal one month old baby had a history of vomiting and diarthea that frequently occurred after breast feeding. The urine gave a positive test for reducing sugars (Benedict's test) while the test was negative by Glucostix (specific for glucose). The RBC were found to be totally deprived of activity of the enzyme galactose 1-phosphate uridyltransferase (Reference range 4-30 units/g of hemoglobin. Diagnosis and discussion The baby was suffering from galactosemia, a metabolic disorder, due to the deficiency of the enzyme galactose 1-phosphate uridyltransferase. The disease is characterized by increase in blood galactose level, and its excretion into urine. For the babies suffering from galactosemia, milk has to be removed from the diet and replaced with infant formula containing sucrose. CASE STUDY 14 ‘An 8-year old girl with enlarged abdomen was irritable and lethargic, and was frequently hungry. She often had the symptoms of weakness and sweating which disappeared on eating. Enquiries revealed that her developments during childhood were rather slow compared to her elder brother. She was weak at school. On clinical examination, the girl was found to have enlarged liver. The laboratory data of the subject are given next.