Quiz 2

(Ref: Harpers illustrated biochemistry, 30th edition page 281-2)
 Kinky hair is a clinical feature of Menke’ disease.
 It is an X linked multi-system lethal disorder of copper metabolism dominated by neurodegenerative symptoms.
 The gene is on long arm of X chromosome and the defective gene is ATP7A.
 The defective gene product is P type Adenosine triphosphatase.
 It leads to defective cellular copper transport affecting the gut. Hence copper accumulates in gut and leads to growth retardation, abnormal hair and cerebellar degeneration. Vasculopathy with fractures and early death is common.
 Choice B Leighs’ disease is mainly autosomal recessive disorder. It also shows mitochondrial inheritance mtDNA, including MT-ATP6 and leads to neurodegeneration.
 Choice C and D are easily ruled out.

(Ref: OP Ghai 8th edition, page 99)
 The child with kwashiorkor will have a fat sugar baby appearance, with characteristic edema representing upto 5-20% of the body weight.
 The presence of pitting edema is a characteristic sign of kwashiorkor and initially the parents of these children might view them as well fed as the edema masks the wasting.
 Muscle wasting is present and made out by the fact that the child is weak, hypotonic and unable to stand.
 Due to insufficient protein intake, serum albumin is low.
 The skin shows flaky paint dermatosis and hair shows Flag sign with easily pluck able hair
 Smooth tongue with cheliosis and child shows apathy with no signs of hunger and it is difficult to feed them.

(Ref: Harrison 20th edition, p 2920; Harrison 19th p 2465, 2485)
 The most specific screening test for vitamin D deficiency in otherwise healthy individuals is a serum D3 level.
 Although the normal ranges vary, levels of 25(OH) D <15 ng/mL are associated with increasing PTH levels and lower bone density; optimal vitamin D levels are > 32 ng/mL.
 Vitamin D deficiency leads to impaired intestinal absorption of calcium, resulting in decreased serum total and ionized calcium values. This hypocalcemia results in secondary hyperparathyroidism, a homeostatic response that initially maintains serum calcium levels at the expense of the skeleton.

(Ref: Harrison 20th edition, p 2316; Harrison 19th p 96e-1t)
 Vitamin E deficiency is not seen after dietary deficiency
 It is pronounced after small intestinal malabsorbtion, celiac sprue, cystic fibrosis and prolonged cholestasis
 In abetalipoproteinemia, the absorption and transport of vitamin E is defective

(Ref: Harrison 20th edition, p 2316; Harrison 19th p 96e-1t)
Dietary deficiency of vitamin E does not exist. Vitamin E deficiency is seen in only severe and prolonged malabsorptive diseases, such as celiac disease, or after small-intestinal resection.

(Ref: Harrison 19th p 460, 463t)
Triceps fold thickness < 3mm and mid arm circumference < 15 cm are diagnostic features of marasmus.
Signs that support the diagnosis of Kwashiorkor
1. Easy hair pluckability
2. Edema
3. Skin breakdown
4. Poor wound healing
5. Major sine qua non is severe reduction of levels of serum proteins such as albumin (<2.8 g/dL) and transferrin (<150 mg/dL) or iron-binding capacity (<200 ug/dL).
6. Cellular immune function is depressed, reflected by lymphopenia (<1500 lymphocytes/dL in adults and older children)
7. Lack of response to skin test antigens (anergy).
The prognosis of adult patients with full-blown Kwashiorkor is not good even with aggressive nutritional support.

(Ref: Harrison 19th p 460, 463t)
 Signs that support the diagnosis of Kwashiorkor include easy hair pluckability, edema, skin breakdown, and poor wound healing.
 The major sine qua non is severe reduction of levels of serum proteins such as
 Albumin (< 2.8 g/dL)
 Transferring (<150 mg/dL) or iron-binding capacity (<200 ug/dL).
 Lymphopenia (<1500 lymphocytes/uL in adults and older children
 Lack of response to skin test antigens (energy)
Creatinine height index < 60% is a diagnostic criteria for marasmus in adults.

(Ref: Harrison 20th edition, p 2316; Harrison 19th p 96e-7, 2463)
Vitamin D insufficiency may increase the risk of
1. Type 1 diabetes mellitus
2. Cardiovascular disease (Hypertension)
3. Brain Dysfunction (e.g., depression).

(Ref: Harrison 20th edition, p 2314; Harrison 19th p 95e-2t, 96e-5)
 Choline is a precursor for acetylcholine, phospholipids, and betaine.
 Choline is necessary for the structural integrity of cell membranes, cholinergic neurotrans-mission, lipid and cholesterol metabolism, methyl-group metabolism, and transmembrane signaling.
 Toxicity from choline results in hypotension, cholinergic sweating, diarrhea, salivation, and a fishy body odour. The upper limit for choline has been set at 3.5 g/d.