3 y old boy with deafness, hypotonia, ichthyosis, osteopenia, IF, chronic enteropathy, initially on PN now on J tube feedings, secondary to MEDNIK syndrome. He had IFALD stage 4 fibrosis, now with normal conjugated bilirubin (CB). Liver biopsy with no iron or copper (Cu) deposition, low Cu quantification, presented with feeding intolerance, persistent diarrhea, dehydration, metabolic acidosis and AKI. Treated with high dose of zinc acetate to avoid accumulation of Cu (brain and liver). He had multiple admissions due to enterocolitis, sepsis and severe anemia related to low Cu. His initial target blood Cu level was ~20’s but it was increased to ~40 mcg/dLto minimized complications. He was started on jejunal feeds of amino-acid (aa) based formula; with control of sepsis was able to wean off of PN, now tolerating oral feeds.

10 y old male with SBS, PN and G/J tube dependent due to multiple congenital atresias, TTC7A gene mutation. History of hypogammaglobinemia, bone marrow transplant and IFALD stage 4 fibrosis, now with normal CB. History of multiple surgeries to correct his intestinal (I) obstruction, left with 75 cm of bowel, a Santulli ostomy and a surgical G and J tube due to severe dysmotility. He had multiple I. strictures dilated endoscopically. He has tolerated progressive advances of J tube feedings decreasing PN needs from 100% to 35%.

3y old male with adrenal insufficiency and IF initially on PN , now G tube dependent, secondary to congenital osmotic diarrhea related to PCSK1 mutation. His IGF-1, IGF-BP3, Prolactin, TSH, free T4, and MRI of the pituitary were normal. He had history of multiple CLABSI and diabetes Insipidus needing vasopressin during sepsis episodes; enterocolitis and severe metabolic acidosis due to B2 deficiency. His diarrhea persisted on all formulas and he was placed on PN and on a custom formula (amino acid powder, microlipids, electrolytes), but due to his low B2 this formula was changed for aa based formula via G tube, tolerating progressive advances of enteral nutrition, with PN wean. He now takes >50% of caloric needs via PO and the rest as nighttime GT feeds. Although obesity is observed in PCSK1 his weight is at the 50% and height at the 10%.

Patients with complex genetic syndromes and diverse nutritional and electrolyte needs can be successfully managed and transitioned from PN to enteral feeding as was done in our IR program, with a multidisciplinary collaborative approach.