Gobs of Glycosamino glycans
This mucopolysaccharidosis includes physical exam finding of corneal clouding in addition to coarse facial features and IQ impairment
What is Hurler's Syndrome?
or: What is Sanfilippo's Syndrome?
Deficiency of this vitamin causes keratomalacia and is the leading cause of blindness worldwide.
What is vitamin A?
The lipid accumulated in this order is Globotriasylceramide.
What is Fabry Disease? Defective alpha-Galactosidase-A leads to an accumulation of Globotriasylceramide and has a phenotype of Leukodystrophy, leukoariosis, stroke, and cataracts.
What is GLUT-1 Deficiency? Presents with refractory seizures with developmental delay, microcephaly, hypotonia, spasticity, ataxia, and dystonia.
This mitochondrial disorder presents with chronic progressive external ophthalmoplegia and retinitis pigmentosa, typically onset prior to 20 years of age.
What is Kearns-Sayre syndrome?
This mucopolysaccharidosis does not include corneal clouding, but does present with features of coarse facial features and IQ impairment.
What is Hunter's Syndrome?
Newborns with intractable seizures refractory to all medications may respond to treatment with this vitamin.
What is pyridoxine (B6)? Pyridoxine dependent epilepsy is typically due to ALDH7A1 gene. Pyridoxine deficiency in adults can be caused by Isoniazid and can cause axonal neuropathy with hyporeflexia and weakness (sometimes seizures). Toxicity is rare, but can cause sensory neuropathy affecting dorsal root and trigeminal ganglia.
What is Nieman-Pick Disease? Deficiency of Sphingomyelinase leads to accumulation of sphingomyelin with a phenotype of optic atrophy, cherry red macula and dementia. Foam cells are seen on pathology.
Patients with a deficiency in this ENZYME present with intellectual disability, cataracts, failure to thrive, increased ICP and are exquisitely susceptible to E Coli infections.
What is Galactose-1-Phosphate? Deficiency of this enzyme causes Galactosemia and is treated by eliminating Galactose and lactose from the diet.
What are ragged red fibers?
This is the defective protein in Hurler's Syndrome.
What is alpha-L-iduronidase? Defect of this protein leads to accumulation of heparan & dermatan sulfate
What are the "3 D's" of Dementia, Dermatitis, and Diarrhea? Other neurologic symptoms may include peripheral neuropathy and myelopathy.
The defective protein in this disease is Arylsulfatase A.
What is Metachromatic Leukodystrophy? Deficiency of Arylsulfatase A leads to accumulation of Sulfatides with a phenotype of dementia, ataxia, peripheral demyelination, cortical atrophy and cherry red spot.
Patients with Urea Cycle Disorders may have exacerbation of neuropsychiatric symptoms when given this anti-epileptic medication.
What is Valproate? UCD Attacks frequently are accompanied by GI symptoms and can also be precipitated by high protein intake.
This is the mitochondrial enzyme that is deficient in Glutamic Acidemia Type I.
What is glutaryl-CoA dehydrogenase, which causes progressive macrocephaly, stratal necrosis, basal ganglia and frontotemporal degeneration.
This is the defective protein in Hunter's Syndrome.
What is Iduronate sulfatase? Defect of this protein leads to accumulation of Heparan & dermatan sulfate.
Physical exam for this fat-soluble vitamin deficiency may include truncal and limb ataxia, decreased deep tendon reflexes, and decreased vibratory and position sensation.
What is Vitamin E? Can cause adult onset cerebellar ataxia and can be seen in patient's with Cystic Fibrosis, Crohn's disease, or short bowel syndrome.
The only defective protein in this disease is Hexosaminidase A.
What is Tay-Sachs Disease? Deficiency of Hexosaminidase A leads to accumulation of GM2 Ganglioside with phenotype of developmental delay, macrocephaly, cherry red macula. Sandhoff is deficiency of Hexosaminidase A & B and also has hepatosplenomegaly.
Babies born without this enzyme present with a mousey, musty odor.
What is Phenylalanine hydroxylase deficiency? Presents with delayed developmental, short stature, intellectual d disability, musty oder and sometimes seizures. Treated with phenylalanine-free diet.
This is the part of the brain with marked destruction in Methylmalonic acidemia.
What is bilateral globes pallidus? Deficiency of mitochondrial L-methylmalonyl-CoA mutate activity causes MMA and lactic acid buildup, which presents in infancy with developmental delay, lethargy, hypotonia, hepatomegaly, coma and sometimes death.
This is the inheritance pattern typically seen in Hurler's Syndrome.
What is autosomal recessive? Compare to X-Linked inheritance in Hunter's and multiple types in Sanfilippo's Syndrome.
Deficiency of this biochemical cofactor can produce a myopathy or progressive cerebellar degeneration due to its role in the electron transport chain.
What is CoQ-10? CoQ-10 has a key role as an electron shuttle between complexes I or II and III in the electron transport chain.
This is the defective protein in Pompe Disease.
What is alpha 1,4-glucosidase (acid maltase)? Deficiency leads to accumulation of glycogen with a phenotype of hypotonia, macroglossia, and deafness. Patients may also have early hypertrophic cardiomyopathy.
This disorder presents with the "eye of the tiger" sign on Brain MRI.
What is Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz disease)? This is caused by the Pantothenate Kinase gene (PANK2) and iron is accumulated within the globes palladium and pars reticularis.
Presents with dysarthria, spasticity, choreothetosis, pigmented retinopathy, equinovarus deformity.
What is Maple Syrup Urine Disease? This presents in infancy with poor feeding, opisthotonos posturing, hypertonia, failure to thrive and seizures; as well as Maple Syrup smelling urine.