Biochem Loyola

A 3-year-old child had normal height and weight, but had a reduced head circumference (microcephaly). This child had a vocabulary of ~20 words and appeared to be grossly mentally retarded. Muscle tone was weak and coordination was poor. The history indicated that the child exhibited decreased movement during the 3rd trimester in utero and fed poorly after birth. At 7 months of age, the child was noted to have slow development of motor skills. Lactic acidosis was detected at 18 months. A number o

A male and female sibling were described as having neonatal jaundice, poor muscle tone, enlarged liver and cataracts. The estimated I.Q. in the young children was low (50-60). These children also exhibited delayed speech and poor coordination. Subsequently a newborn sibling was identified as having the same genetic defect. This child was immediately placed on a lactose-free diet. These children have a deficiency in galactose 1-phosphate uridyl transferase.

A 3-month old female infant seemed normal until she developed seizures. The infant became progressively worse, showing reduced muscle tone, retardation of mental and motor development, and poor head control. She had elevated lactate and lactic acidosis; she also had elevated plasma pyruvate. Both lactate and pyruvate were increased 5-7 fold. The plasma alanine concentration was high, and an alanine load failed to induce a normal gluconeogenic response.

Another infant with pyruvate carboxylase deficiency was treated with high doses of citrate, aspartate, and continuous drip feedings. Lactate and ketones diminished dramatically, but the child had profound mental retardation.

A female baby was apparently well until six weeks of age. However, she has not been thriving since her parents lengthened time between feedings. She wakes up frequently and is irritable; she calms down with feeding. It appears that her abdomen is protruding more and more. Following an overnight fast, the baby exhibits severe fasting hypoglycemia.

Eleanor, aged 12, developed exercise intolerance during her childhood. She suffers from fatigue and painful cramps in her muscles when she tries to sprint or perform strenuous exercise. Nonetheless, she is able to keep up with her friends fairly well on long hikes and in usual play, and she appears to be normal in other respects. Although Eleanor experiences fatigue and muscle cramps after a spring, she sometimes gets a second wind, whereby exercise becomes more easily tolerated after 10 minutes

Problem 1: Carnitine deficiency Problem 2: HLD Type II