Definition of GALT GALT:The lack of the enzyme to break down the sugar (galactose-1-phosphate uridyl transferase) causes the genetic metabolic disease called galactosemia. Galactosemia is an elevated level of galactose in the blood.GALTis also the acronym for the gene that encodes the enzyme. ...
False.Celiac disease is a disease that affects children and adults. It affects 1 in 133 otherwise healthy people in the U.S. Celiac symptoms are often apparent in children who experience failure to thrive, diarrhea, and retarded growth, but symptoms can manifest for the first time in adults ...
Related to heart failure: congestive heart failureHeart Failure Definition Heart failure is a condition in which the heart has lost the ability to pump enough blood to the body's tissues. With too little blood being delivered, the organs and other tissues do not receive enough oxygen and nutrie...
The syndrome was first noticed when European psychiatrists studied the development of babies who had spent the first five years of their lives in institutions where they were deprived of the emotional warmth of a mother, father, or other primary caregiver.Characteristics of the failure to thrive ...
A life-threatening intestinal malabsorption disorder (OMIM:226200) characterised by diarrhoea, failure to thrive and hypoproteinaemic oedema.Molecular pathologyDefects in TMPRSS15 (PRSS7), which encodes proenterokinase, a serine protease responsible for activating pancreatic proteolytic proenzymes, cause en...
Note: A personal digital assistant (PDA) does not meet Aetna's definition of covered DME in that the PDA can be used in the absence of illness or injury. Infrared Thermometer Device There is insufficient evidence for the effectiveness of an infrared thermometer device (e.g., TempTouch) for...
an inborn error of copper metabolism, onset within a few weeks of birth; manifested by short, sparse, poorly pigmented kinky hair; failure to thrive; development of seizures; spasticity; and progressive mental deterioration leading to death. X-linked recessive inheritance due to a defect of copper...
Sudden cessation of diarrhea should also be concerning. Abdominal pain Malaise Congenital aganglionic megacolon: Majority will present in the neonatal period. Bilious emesis Failure to pass meconium or stool Feeding intolerance and failure to thrive Physical exam Common findings: Abdominal distension...
pallor failure to thrive precordial exam: displaced apex systolic thrill murmur : small vsd: harsh holosystolic grade 2 or 3 left lower sternal border large vsd: systolic murmur with diastolic rumble (apex) no murmur, if severe signs of respiratory failure : tachypnea grunting nasal flaring ...
and failure to thrive. Severe polyhydramnios, prematurity, and occasionally sensorineural deafness are the hallmark features. Mutations in theSLC12A, KCNJ1,andBSNDgenes (Bartter syndrome type I, type II, and type IV, respectively) typically result in severe dysfunction of the thick ascending limb ...