Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations

Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type

“…[5][6][7][8][9][10][11][12][13][14][15][16][17] None of these reports provides longitudinal data of patients with genetically identified cblC. Here, we present detailed ocular function data over a relatively long follow-up period of patients with cblC and identified mutation in the MMACHC gene.…”

Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash

“…It is known that phenobarbitone treatment may cause increased homocysteine [Cheng et al, 2010] and it is possible that it contributed to the florid skin eruption, as phenobarbitone in isolation is rarely associated with skin reactions. [Arif et al, 2007] It is worth noting that an acrodermatitis enterohepatica-like rash has also been reported in Cobalamin C deficiency, suggesting that a biochemical anomaly common to both conditions, i.e., inadequate remethylation of homocysteine to methionine, may be a factor in the development of the skin manifstations [Howard et al, 1997]. Of interest, in this case, after discontinuation of phenobarbitone, folinic acid was introduced empirically for a number of months as a treatment (along with pyridoxine) for potential vitaminresponsive seizure disorder.…”

Acrodermatitis enteropathica–like eruption and failure to thrive as presenting signs of cystic fibrosis

“…17,18 In addition to CF, many other systemic conditions can resemble or have been associated with acrodermatitis enteropathica due to acquired zinc and/ or protein deficiency. These conditions include Crohn's disease, 2 propionic acidemia, 11 glutaric aciduria type 1, 12 nonketotic hyperglycinemia, 13 isoleucine deficiency, 14 alcoholic pancreatitis and cirrhosis, 19,20 intestinal bypass operation, 21 lymphoma, 22 biotin deficiency, 23 anorexia nervosa, 24 chemotherapy for hematologic malignancies, 25 citrullinemia, 26 essential fatty acid deficiency, 27 deficiency of ornithine transcarbamylase, 28 total intravenous hyperalimentation, 29 methylmalonic acidemia, 30 HIV infection, 31 and partial gastrectomy. 32 …”