Children deficiency

In children, deficient levels of ornithine carbamoyitransferase (an enzyme involved in the urea cycle, and which converts ornithine and carbamoyl phosphate to citrulline) [218,220] present as orotic aciduria, a secondary effect resulting indirectly from the accumulation of carbamoyl phosphate. The deficiency of ornithine carbamoyitransferase leads to overall stimulation of pyrimidine synthesis de novo which is reflected by an increased production and excretion of orotic acid. 

Mclntire, M.S., Angle, C.R., 1972. Air lead relation to lead in blood of black school children deficient in glucose-6-phosphate dehydrogenase. Science 177, 520—522. 

This is an inherited condition in which there is a deficiency of one of the enzymes of cortisol biosynthesis. The resulting low plasma cortisol levels result in high levels of ACTH production because of the absence of feedback control. This in turn results in the accumulation of androgens and cortisol precursors. The consequences of this are pseudohermaphroditism in the female child and virilization in the male child. Deficiencies of 3 -dehydrogenase, 21 -hydroxylase and 1 IjS-hydroxylase have been described. The most common is 21 -hydroxylase deficiency, in which there is abnormal sodium loss (the salt-losing syndrome), due to impaired aldosterone production. 11 -Hydroxylase deficiency results in the excess secretion of 11-deoxycorticosterone and since this is an active mineralocor-ticoid, salt and water retention and hypertension result. 

Pure selenium deficiency, without concurrent vitamin E deficiency, is not generally seen except in animals on experimental diets (113). In China, selenium deficiency in humans has been associated with Keshan disease, a cardiomyopathy seen in children and in women of child-bearing ages, and Kashin-Beck disease, an endemic osteoarthritis in adolescents (113). 

All 20 of the amino acids present in proteins are essential for health. While comparatively rare in the Western world, amino acid deficiency states are endemic in certain regions of West Africa where the diet relies heavily on grains that are poor sources of amino acids such as tryptophan and lysine. These disorders include kwashiorkor, which results when a child is weaned onto a starchy diet poor in protein and marasmus, in which both caloric intake and specific amino acids are deficient. 

The reported risk factors for HIV-associated sensory neuropathy are varied and may have changed since the availability of HAART. In the pre-HAART era, age, nutritional deficiencies, alcohol exposure, higher HIV viral load, and low CD4 counts (Moyle and Sadler 1998 Childs et al. 1999), as well as mood, other neurologic disorders and functional abnormalities (Schifitto et al. 2002) were neuropathy risk factors. In the HAART era, the use of NRTI (Cherry et al. 2006 Pettersen et al. 2006) and exposure to protease inhibitor (PI) medication (Pettersen et al. 2006 Smyth et al. 2007) are considered additional risk factors. Although hepatitis C mono-infection has been associated with peripheral nerve disease, and there is... 

Raupp, R, et al.. Henna causes life threatening haemolysis in glucose-6-phosphate dehydrogenase deficiency. Arch. Dis. Child., 85, 411, 2001. 

Review and retest the child using adult GH deficiency diagnostic criteria once the child reaches final adult height. 

G4. Giblett, E. R., Ammann, A. J., Wara, D. W., Sandman, R., and Diamond, L. K., Nucleoside phos-phorylase deficiency in a child with severely defective T cell immunity and normal B cell immunity. Lancet 1, 1010-1013 (1975). 

Although human narcolepsy is not typically associated with orexin gene mutations, the orexin / model is most similar to the case of a narcoleptic-cataplectic child, severely symptomatic from infancy, who has a genetic defect in orexin production and release (Peyron et al., 2000). Thus, constitutive orexin deficiency alone in the presence of otherwise histologically normal orexin neurons... 

Evans WE, Horner M, Chu YQ et al. Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphocytic leukemia. J Pediatr 1991 119 985-989. 

McBride KL, Gilchrist GS, Smithson WA et al. Severe 6-thioguanine-induced marrow aplasia in a child with acute lymphoblastic leukemia and inhibited thiopurine methyltransferase deficiency. J Pediatr Hematol Oncol 2000 22 441-445. Weinshilboum RM, Sladek SL. Mercaptopurine pharmacogenetics monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet 1980 32 651-662. 

Sallee FR, DeVane CL, Ferrell RE. Fluoxetine-related death in a child with cytochrome P-450 2D6 genetic deficiency. 

Lennard L, Gibson BES, Nicole T, Lilleyman JS. Congenital thiopurine methyltransferase deficiency and 6-mer-captopurine toxicity during treatment for acute lymphoblastic leukaemia. Arch Dis Child 1993 69 577-579. 

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is distinctly rare and even more devastating clinically than deficiencies of glucose-6-phosphatase or fructose-1,6-bisphosphatase. PEPCK activity is almost equally distributed between a cytosolic form and a mitochondrial form. These two forms have similar molecular weights but differ by their kinetic and immunochemical properties. The cytosolic activity is responsive to fasting and various hormonal stimuli. Hypoglycemia is severe and intractable in the absence of PEPCK [12]. A young child with cytosolic PEPCK deficiency had severe cerebral atrophy, optic atrophy and fatty infiltration of liver and kidney. 

Z2. Zinkham, W. H., Lenhard, R. E., Jr., and Childs, B., A deficiency of glucose-6-phosphate dehydrogenase activity in erythrocytes from patients with favism. Bull. Johns Hopkins Hosp. 102, 169-175 (1958). 

A 6-month-old infant is seen in the emei ency room with a fractured rib and subdural hematoma. The child s hair is thin, colorless, and tangled. His serum copper level is 5.5 nM (normal for age, 11-12 nM). Developmental delay is prominent. A deficiency of vhich enzyme activity most dosely relates to these symptoms ... 

A child is diagnosed with a congenital deficiency of medium-chain acyi-CoA dehydrogenase activity. Which of the following signs or symptoms would most likely occur upon fasting in this child ... 

An underweight 4-year-old boy presents semi-comatose in the emergency room at 10 a.m. Plasma glucose, urea, and glutamine are abnormally low acetoacetate is elevated and lactate is normal. He Is admitted to the ICU, where an increase in blood glucose was achieved by controlled infusion of glucagon or alanine. Which metabolic pathway is most likely deficient in this child ... 

IWo days after a full-term normal delivery, a neonate begins to hyperventilate, develops hypothermia and cerebral edema, and becomes comatose. Urinalysis reveals high levels of glutamine and orotic acid. The BUN is below normal. Which enzyme is most likely to be deficient in this child ... 

Answer E. The child has PKU aspartame contains phenylalanine. These children may be blond, blue eyed, and pale complected because of deficient melanin production from tyrosine. 

If a pregnant woman is affected by mercury poisoning, the consequences may affect the child. As a result, the child may suffer from profound mental deficiency, atrophy of cerebral cortex, commisure and cerebellum neuron destruction. Acrodynia is a syndrome that affects children exposed to organic and inorganic mercury compounds. Symptoms include itchy, measles-like rash followed by desquamation of palm and foot skin, essential tachycardia, generalized swellings, hypertension and salivation (Harada, 1995). 

Box 7.2 A deficiency of the hepatic glycogen store hypoglycaemia and ketosis in a child... 

In twelve of sixty-three patients, both the serum IgM and the serum IgG concentrations were depressed. Two of these Burkitt s lymphoma children also had low IgA, but in the other 10 children the scrum IgA was normal. There were 5 known deaths in children classified with this type II deficiency. Seven of these children had tumor classification of the grade III type III immunoglobulin deficiency. There were 14 children with Burkitt s lymphoma classified with this type III immunoglobulin deficiency with moderately reduced levels of scrum IgG and normal levels of IgM. One child in the grouji had a moderately elevated IgA,... 

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