Casefile 4: Lipoamide dehydrogenase deficiency

What a debate Inspector Zhao and Dectective CXY had!!! I have to admit they were making a lot of noise...goodness. Talking about hypoglycemia, I just found out that it can be a sign of this disease with a long long name: Lipoamide dehydrogenase deficiency(LAD). Cheem right?

LAD is a rare cause of primary lactic acidosis in children. It has been reported in about 20 patients. Patients are usually free from symptoms in the first few weeks or months of life except for inconstant episodes of HYPOGLYCEMIA (haha...here's where the word appears. See, it's linked!). Oh, by the way, it's a neonatal disease that can occur in all ages, isn't that scary? Brr...

Ok, here comes a sophistically complicatedly complex sentence. LAD is a catalytic subunit shared by three mitochondrial enzymes: pyruvate dehydrogenase (PDH), branched chain-keto acid dehydrogenase (BCKAD) and alpha-ketoglutarate dehydrogenase (alpha-KGD). Do you understand a word? I'm sure you don't, haha. That's why I, Forensic Scientist Kelly, am here to explain it specially for you.

First, Pyruvate dehydrogenase is an enzyme (E1) in the pyruvate dehydrogenase complex (PDC). It catalyses the rate-limiting reaction within the PDC. You can get all the information from the net if you don't understand.

Next, branched-chain alpha-keto acid dehydrogenase complex is a combination of enzymes responsible for the degradation of the branched chain amino acids. Examples include valine, isoleucine, and leucine (recognise these names? Ahaha...3 of the 20 amino acids we memorised). A deficiency in any of the enzymes of this complex as well as an inhibition of the complex as a whole is responsible for maple syrup urine disease.

Lastly, alphagluterate dehydrogenase is an enzyme complex most commonly known for its role in the citric acid cycle. Much like pyruvate dehydrogenase complex, this enzyme forms a complex composed of three components: E1(EC 1.2.4.2), E2(EC 2.3.1.61) and E3(EC 1.8.1.4), which use thiamine pyrophosphate, lipoic acid and NAD+ as coenzymes, respectively.

Ok, I think all these information is really confusing. Coming back to LAD...Neonatal onset with metabolic lactic acidosis, hypoglycemia, lethargy and failure to thrive can occur. Some patients are free of symptoms between acute attacks. Adult patients have also been reported with acute hepatitis, lactic acidosis and myoglobinuria, without any neurological symptoms.

So is there a way to be saved? In a way yes! Prenatal diagnosis, using molecular analyses on chorionic villous samples, is available to families in which the mutations of the genes have been identified.

Phew!!! Ok fine, i give loooooong lectures. I really have to own it to Detective CXY, haha. By the way Inspector Zhao, it is unhealthy to eat doughnuts all the time! Remember the article on trans fats? Yeah...doughnuts are especially rich in trans fats! Be mindful of your health! Haha...

By Forensic Scientist Kelly
Kelly Ng (30)

Casefile 3 : Hypoglycemia

Sugar or no sugar. An Un-scientific debate






Inspector Zhao: G'day Detective, how's your case coming along?

Detective CxY: Oh, not much progress, plus the witness just fainted...

Inspector Zhao: What?! Why?

Detective CxY: I don't know. Her boyfriend claimed that she lacked sugar...

Inspector Zhao: Don't be stupid! There's no such thing as a lack of sugar, just excess. I mean, look at the obesity rates nowadays!

Detective CxY: EXACTLY! That was my perception initially! But Dr Kelly said that the witness was suffering from hypo... hypotonic thing!!

Prof Chia: (shouts across the room) It's hypoglycemia, you poop!!!

Detective CxY: Oops :P

Inspector Zhao: Hypogl..glands? What's that? I only know that excessive sugar causes Diabetes

Detective CxY: It's hypoglyCEMIA!!! Yayy, I got it right this time, didn't I? *heh* Anyway, according to what I understand from Dr Kelly's looooong lecture... it is low blood sugar.

Inspector Zhao: More like high blood sugar, right? Stop pulling my leg. I knew there was a conspiracy against me!

Detective CxY: Oh WOW. Like who wants to conspire against you? Hypogly... glycemia can happen to anyone, of any age, of any race, of any medical record whatsoever. It can happen to a person just after an overnight fast.

Inspector Zhao: Really? But when I'm working very hard I sometimes skip my meals! Am I suffering from hypoo.. hypo.. hypoblahblahblah?

Detective CxY: MAYBE!! (: Sometimes, a person can be suffering hypoglycemia without any symptom because his or her blood sugar just falls below the normal amount for a short period of time, and this blood sugar can be increased just by eating foods rich in carbohydrates! However, prolonged untreatment of hypoglycemia can lead to serious consequences like...

Inspector Zhao: AH WHAT?! TELL ME!! MY LIFE COULD BE AT RISK! DO YOU REALLY WANT TO DEPRIVE THE WORLD OF ME?!

Detective CxY: Woah, I've never seen a more egoistical person than you! Well, because brain activities depend on the sugar from the blood, when the sugar level falls below the normal level for long periods of time, impairment of action and judgement, and even loss of consciousness. The most serious cases have resulted in ------

Inspector Zhao: Impairment of action and judgement? Sounds like you might be suffering from it too! hahahahaha!

Detective CxY: LOL! Stop interrupting me, you hypoglycemic freak! Fine, I'm not going to tell you the consequences of the most serious cases. Might as well just let you die. XD

Inspector Zhao: Oh fine. I'll keep my mouth shut for now.

Detective CxY: Good girl!

Inspector Zhao: Hrmph. I. Am. Not. Amused.

Detective CxY: Hahaha. Ok, looks like you're suffering from mild impairment of speech already! Gosh, go eat something now before permanent brain damage happens and there's no way to regret!!!

Inspector Zhao: Good thing I stopped by Raffles Cityl to get donnuts just now. *CHOMP CHOMP CHOMP* Okay. Now tell me the serious consequences!

Detective CxY: I just said it. -_-lll

Inspector Zhao: What? No you didn't! Detective! Stop being so irresponsible! I do not appreciate this sort of secrecy!

Detective CxY: WHAT. I'm serious. I JUST SAID IT!

Inspector Zhao: You mean permanent brain damage? OH NO!

Detective CxY: Haha, now then you realise. Looks like you've got impairment of everything, not just speech!

Inspector Zhao: AH HELP MEEEEEE!!
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Thank you for reading our spastic and nonsensical deabte. We truly appreciate your support.
Did you not realise that "permanent brain damage" was said, or that a number of other consequences were mentioned, just like Inspector Zhao? If yes, take care! Muahahahahaha! X)

Casefile 2 : Hypervitaminosis A

Ariboflavinosis sounds painful. I mean so many of us get sore throats and make it seem as if we're never going to be able to speak again. Since, according to wikipedia, Ariboflavinosis occurs most frequently in populations consuming limited quantities of riboflavin-containing foods such as meats, eggs, milk, cheese, yogurt, leafy green vegetables and whole grains, HAH, it means that vegetarians may not be spared from Ariboflavinosis! So make sure that you get enough of everything everyday or you might risk getting looking like you're wearing lipstick that will never rub off.

Although you shouldn't diet excessively, you shouldn't eat to much either because there's this thing called Overnutrition, basically eating too much. It can lead to lots of horrible diseases and illnesses. Like Mr Johari said, if you take too many VitC or MutiVit tablets you may suffer from vitamin poisoning or hypervitaminosis. Let's talk about Vitamin A.

Vitamin A is needed for vision, regulation of gene expression, immunity, growth and development of our bodies and even red blood cell production. You would think that this vitamin is needed for so many things that your body probably never gets enough. But do you know that excessive intake of Vitamin A can cause:
-birth defects [I needn't go into details]

-liver abnormalities [It could lead to Ariboflavinosis]

-reduced bone mineral density that may result in osteoporosis

-coarse bone growths

-hair loss [No one wants to bald before 60]

-excessive skin dryness/peeling

Hypervitaminosis A occurs when your liver is unable to store anymore retinoids [a class of chemical compounds that are related chemically to vitamin A] and excess enters the blood stream, causing system toxicity. Though you may suffer from this if you eat too much liver [foie gras anyone?], studies have shown that most Vitamin A toxicity cases were caused by an excessive intake of Vitamin A suplements so put down that box of Chewy MultiVits right now! Symptoms of Hypervitaminosis A include nausea and vomiting, headache, dizziness, blurred vision, and loss of muscular coordination. Not very pleasant. It's worse than how some may have felt after kayaking for hours in the rain during OBS :o

This post was inspected by Inspector Zhao :D