title: Abnormalities of acid-base balance and predisposition to metabolic acidosis in Metachromatic Leukodystrophy patients.
abstract: Metachromatic Leukodystrophy (MLD; MIM# 250100) is a rare inherited lysosomal storage disorder caused by the deficiency of Arylsulfatase A (ARSA). The enzymatic defect results in the accumulation of the ARSA substrate that is particularly relevant in myelin forming cells and leads to progressive dysmyelination and dysfunction of the central and peripheral nervous system. Sulfatide accumulation has also been reported in various visceral organs, although little is known about the potential clinical consequences of such accumulation. Different forms of MLD-associated gallbladder disease have been described, and there is one reported case of an MLD patient presenting with functional consequences of sulfatide accumulation in the kidney. Here we describe a wide cohort of MLD patients in whom a tendency to sub-clinical metabolic acidosis was observed. Furthermore in some of them we report episodes of metabolic acidosis of different grades of severity developed in acute clinical conditions of various origin. Importantly, we finally show how a careful acid-base balance monitoring and prompt correction of imbalances might prevent severe consequences of acidosis.
authors: San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), San Raffaele Hospital, Milano, Italy; Pediatric Immunohematology Unit, San Raffaele Hospital, Milano, Italy; Stem Cell Transplantation Program, San Raffaele Hospital, Milano, Italy; Vita-Salute San Raffaele University, Milano, Italy.
authors: L
authors: L
authors: Lorioli
authors: San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), San Raffaele Hospital, Milano, Italy; Pediatric Immunohematology Unit, San Raffaele Hospital, Milano, Italy.
authors: M P
authors: MP
authors: Cicalese
authors: Departement of Anesthesia and Critical Care, San Raffaele Hospital, Milano, Italy.
authors: P
authors: P
authors: Silvani
authors: Pediatric Immunohematology Unit, San Raffaele Hospital, Milano, Italy; Stem Cell Transplantation Program, San Raffaele Hospital, Milano, Italy; Bone marrow Transplantation Unit, San Raffaele Hospital, Milano, Italy.
authors: A
authors: A
authors: Assanelli
authors: Pediatric Anesthesia and Intensive Care, Buzzi Children Hospital, Milano, Italy.
authors: I
authors: I
authors: Salvo
authors: Pediatric Anesthesia and Intensive Care, Buzzi Children Hospital, Milano, Italy.
authors: A
authors: A
authors: Mandelli
authors: San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), San Raffaele Hospital, Milano, Italy; Neurology Department, Division of Neuroscience, San Raffaele Hospital, Milano, Italy.
authors: F
authors: F
authors: Fumagalli
authors: Departement of Anesthesia and Critical Care, San Raffaele Hospital, Milano, Italy.
authors: R
authors: R
authors: Fiori
authors: Bone marrow Transplantation Unit, San Raffaele Hospital, Milano, Italy.
authors: F
authors: F
authors: Ciceri
authors: San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), San Raffaele Hospital, Milano, Italy; Pediatric Immunohematology Unit, San Raffaele Hospital, Milano, Italy; Stem Cell Transplantation Program, San Raffaele Hospital, Milano, Italy; Vita-Salute San Raffaele University, Milano, Italy.
authors: A
authors: A
authors: Aiuti
authors: San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), San Raffaele Hospital, Milano, Italy; Neurology Department, Division of Neuroscience, San Raffaele Hospital, Milano, Italy.
authors: M
authors: M
authors: Sessa
authors: San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), San Raffaele Hospital, Milano, Italy; Pediatric Immunohematology Unit, San Raffaele Hospital, Milano, Italy; Stem Cell Transplantation Program, San Raffaele Hospital, Milano, Italy; Vita-Salute San Raffaele University, Milano, Italy.
authors: M G
authors: MG
authors: Roncarolo
authors: Nephrology Department, San Raffaele Hospital, Milano, Italy.
authors: C
authors: C
authors: Lanzani
authors: San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), San Raffaele Hospital, Milano, Italy; Pediatric Immunohematology Unit, San Raffaele Hospital, Milano, Italy; Stem Cell Transplantation Program, San Raffaele Hospital, Milano, Italy. Electronic address: biffi.alessandra@hsr.it.
authors: A
authors: A
authors: Biffi
mesh_terms: D000136:Acid-Base Equilibrium; D000137:Acid-Base Imbalance; D000138:Acidosis / Q000097:blood / Q000150:complications* / Q000517:prevention & control / Q000652:urine; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000150:complications* / Q000378:metabolism*; D008991:Monitoring, Physiologic; D012189:Retrospective Studies; D013997:Time Factors
keywords: Acid–base balance monitoring; Kidney tubule dysfunction; Metabolic acidosis; Metachromatic Leukodystrophy