Minerals
Deficiency of this vitamin causes night blindness and Bitot's spots.
What is vitamin A?
NIGHT BLINDNESS
XEROPHTHALMIA (dry eyes)
KERATOMALACIA (softening and cloudiness of cornea)
Although the concentration of this mineral in human milk is lower compared to cow's milk, its bioavailability is higher from human milk.
What is iron?
Greatest risk factor for obesity in children <3 years of age.
What is parental obesity?
This overgrowth syndrome is associated wtih an increased risk of hepatoblastoma in children <2 years old.
What is Beckwith-Wiedemann Syndrome?

What is gastric mucosa?
This deficiency can cause anemia, leukopenia, loss of pigment from the skin and bone fractures.
What is copper?
This element, important in prevent metabolic bone disease, is present in a 2-fold great concentration in pre-term formulas compared to standard infant formula.
What is phosphorus?
This form of malnutrition is characterized by edema and hepatomegaly with fatty infiltrates.
What is kwashorkor?
CAUSED BY SEVERE PROTEIN MALNUTRITION. TOTAL CALORIES ARE OFTEN SUFFICIENT BUT PROTEIN CONSUMPTION IS LACKING.
CONTRAST TO MARASMUS WHICH IS CHARACTERIZED BY ENERGY DEFICIENCY.
CLINICAL PICTURE OFTEN MIXED: MARASMIC KWASHIORKOR
Children with this syndrome have nasal wing hypoplasia, exocrine pancreatic insufficiency and absence of permanent teeth.
What is Johanson-Blizzard?
MAY ALSO HAVE ECTODERMAL SCALP DEFECTS, DEAFNESS, HYPOTHYROIDISM, UROGENITAL MALFORMATION UBR1 GENE MUTATION
What is basal zone hyperplasia?
This micronutrient deficiency in patients on parenteral nutrition is responsible for cardiomyopathy.
What is selenium?
This is the major protein in the whey of cow's milk and the major antigen responsible for cow's milk protein allergy.
What is B-lactoglobulin?
These are 3 primary electrolyte depletions present in refeeding syndrome.
What are PHOSPHORUS, POTASSIUM,
MAGNESIUM?
This syndrome is characterized by pancreatic insufficiency and bone marrow dysfunction.
What is Shwachman Diamond Syndrome?
This are 2 of 4 histologic findings diagnostic of celiac disease.
What are:
intraepithelial lymphocytosis
villous atrophy
intestinal crypt hyperplasia
lamina propia inflammation?
Poor growth, rough scaly skin, thrombocytopenia and a serum triene-to-tetraene ratio >0.4 are suggestive of this deficiency.
What is essential fatty acid deficiency?
AT RISK PATIENTS INCLUDE:
TPN WITHOUT LIPIDS
SHORT BOWEL SYNDROME
SIGNIFICANT MALABSORPTION
PANCREATIC INSUFFICIENCY
S/P BARIATRIC PROCEDURES
PROLONGED CHYLE LEAKS
The approximate protein requirement for term infants.
What is 2-3 g/kg/day (3 g/kg/day in preterm)?
This is the most common form of obesity.
What is Prader-Willi?
AS INFANTS THESE PATIENTS ARE OFTEN FAILURE TO THRIVE DUE TO FEEDING DIFFICULTIES AND HYPOTONIA
This syndrome caused by a mutation in FOXP3 is characterized by severe diarrhea, severe eczema, early autoimmune disease, neutropenia and recurrent infections.
What is IPEX syndrome?
IMMUNODYSREGULATION POLYENDOCRIONPATHY ENTEROPATHY X-LINKED SYNDROME
This histologic finding in a 5 yo presenting with vomiting, edema, albumin of 1.9 and large tortuous gastric folds on endoscopy.
What is CMV inclusion?
(Menetriere's disease)
This vitamin is involved in the synthesis and repair of DNA. Patients on anticonvulsants and methotrexate are at risk of deficiency.
What is vitamin B9 (folate/folic acid)?
This digestive enzyme which aids in the digestion of starches is found only in human milk.
What is amylase?
(Infant pancreas does not secrete amylase until 6 months of age. Lipase also present in human milk.)
This hormone acts on the pancreas affecting glycemic control, inhibits gastric motility and contributes to satiety.
What is GLP-1?
This polyp syndrome is also associated with genital pigmentation.
What is BANNAYAN-RILEY-RUVALCABA Syndrome?
ALSO DEVELOPMENTAL DELAY
MACROCEPHALY
LIPOMAS
HEMANGIOMATOSIS
Diagnosis:
What is intestinal lymphangiectasia?
CAN BE PRIMARY OR SECONDARY (RHEUMATIC, NEOPLASTIC). PRESENTS AS PLE, PITTING EDEMA, DIARRHEA, MALABSORPTION, LYMPHOCYTOPENIA