744 Exam 2 - Treatments

Classic Galactosemia (GALT deficiency)

"Dietary Management (Lactose-free formula

Hereditary Fructose Intolerance (HFI)

"Dietary Management (Eliminate fructose

Glycogen Storage Disease Type Ia (Von Gierke)

"Dietary Management (Prevent fasting hypoglycemia; frequent feeds

Glycogen Storage Disease Type 0a

"Dietary Management (Prevent fasting hypoglycemia and hyperketosis)"

Glycogen Storage Disease Type Ib

"Dietary Management (Prevent fasting hypoglycemia; frequent feeds

Pompe Disease (GSD II)

"ERT (Alglucosidase alfa/Lumizyme)"

McArdle Disease (GSD V)

"Dietary Management (Ingestion of oral sucrose before activity)"

Duarte Galactosemia

"Dietary Management (Temporary lactose restriction in infancy

GLUT2 Deficiency

"Dietary Management (Restrict glucose and galactose)"

G6PD Deficiency

"Avoidance (Avoid oxidative stressors: specific drugs

Congenital Disorders of Glycosylation (CDG)

Supportive Care

General Mitochondrial Disease

"Supportive Care; Dietary Management (Ketogenic diet for seizures); ""Mito Cocktail"" (Carnitine

X-linked Adrenoleukodystrophy (X-ALD)

"Pharmacologic (Leriglitazone for cALD/AMN); Gene Therapy (In-vivo AAV9-based

Zellweger Syndrome

Supportive Care; Consider hospice

Rhizomelic Chondrodysplasia Punctata (RCDP)

"Dietary Management (Restrict phytanic acid: fish

MPS I (Hurler)

"ERT (Laronidase/Aldurazyme); HSCT (for classic form to slow CNS progression)"

MPS II (Hunter)

"ERT (Idursulfase/Elaprase); Gene Therapy (Phase II clinical trials)"

MPS III (Sanfilippo)

Supportive Care; ERT/Gene Therapy (in clinical trials)

MPS IVa (Morquio)

ERT (Elosulfase alfa/Vimizin)

MPS VI (Maroteaux-Lamy)

ERT (Galsulfase/Naglazyme)

MPS VII (Sly)

Supportive Care; ERT (Vestronidase alfa/Mepsevii)

Fabry Disease

"ERT (Agalsidase beta/Fabrazyme); Chaperone Therapy (Migalastat/Galafold)"

Gaucher Disease Type 1

"ERT (Imiglucerase/Cerezyme

Metachromatic Leukodystrophy (MLD)

"Supportive Care; HSCT (in early late-juvenile/adult onset); Ex-vivo Autologous HSCT Gene Therapy (FDA approved 2024)"

Krabbe Disease (Infantile)

HSCT (before 14 days of life); Gene Therapy (in development)

Niemann-Pick Disease Type B

ERT (Olipudase alpha for non-CNS symptoms)

Niemann-Pick Disease Type C

"Substrate Reduction Therapy (Miglustat/Zavesca - approved in UK

Neuronal Ceroid Lipofuscinosis - CLN2

ERT (Cerliponase alfa/Brineura - weekly intraventricular injection)

Pyruvate Dehydrogenase (PDH) Deficiency

"(Treatment not specified in PPTX; falls under general mitochondrial supportive care)"

mtDNA Depletion Disorders

"(Treatment not specified in PPTX; falls under general mitochondrial supportive care)"

MERRF

"(Treatment not specified in PPTX; falls under general mitochondrial supportive care)"

MELAS

"(Treatment not specified in PPTX; falls under general mitochondrial supportive care)"

NARP

"(Treatment not specified in PPTX; falls under general mitochondrial supportive care)"

LHON

"(Treatment not specified in PPTX; falls under general mitochondrial supportive care)"

Kearns-Sayre Syndrome (KSS)

"(Treatment not specified in PPTX; falls under general mitochondrial supportive care)"

Pearson Syndrome

"(Treatment not specified in PPTX; falls under general mitochondrial supportive care)"

Chronic Progressive External Ophthalmoplegia (CPEO)

"(Treatment not specified in PPTX; life expectancy typically normal)"

Infantile Refsum Disease

Supportive Care

Neonatal Adrenoleukodystrophy (NALD)

Supportive Care

Tay-Sachs Disease

Supportive Care

Gaucher Disease Types 2 & 3

Supportive Care (ERT is NOT approved)

Niemann-Pick Disease Type A

Supportive Care (ERT is for non-CNS symptoms in Type B)

Neuronal Ceroid Lipofuscinosis - CLN3

"Supportive Care; Gene Therapy (for vision loss in clinical trials)"

Galactokinase Deficiency (GALK)

Dietary Management (Lactose restriction)

Epimerase Deficiency Galactosemia (GALE)

"(Treatment depends on severity; not specified in PPTX)"