Infantile-onset GSDII

Slides:

Advertisements

Similar presentations

Metabolism of ganglioside GM2 in GM2 activator-deficient fibroblasts

Advertisements

Unusual late-onset OTC deficiency pedigree demonstrating male-to-female transmission.466 Patient VI-a had multiple episodes of hyperammonemia starting.

A: Population frequency histogram of urinary debrisoquine/4-hydroxydebrisoquine ratios after debrisoquine administration to 258 individuals in a healthy.

(A) Right eye of a 28-month-old boy before topical cysteamine therapy, showing abundant crystals. (B) Same eye as in A after 7 months of 0.5 percent cysteamine.

One kindred with two GGM patents

Genomic organization of the human cathepsin K gene

A, Diagnosis of clinical severity (mild, moderate, severe) of hemophilia is based on in vitro coagulant activity as shown. B, Distribution of severe and.

Spectrum of different types of human gene mutations logged in Human Gene Mutation Database as of September 13, 1998 ( Source: The.

Urine organic acids in an infant with glutaric acidemia type II

Physical map of a human chromosome

Advantages of isolated liver transplantation before kidney failure over combined liver-kidney transplantation afterwards. Oxalate excretion: Black line.

Percentile lines for the relationship between insulin sensitivity (SI) and the first-phase insulin response (AIRglucose) based on data from 93 normal subjects.45.

A, Control human fibroblasts incubated with LDL for 24 h, immunostained with antipeptide antibodies to the C-terminus of NPC1 protein, and viewed with.

Histochemical stain of skin biopsies showing fatty alcohol oxidizing activity using hexanol as substrate. A. The staining pattern of a control patient.

Morphologic appearance of EH skin. Shown is a semithin section (0

Distribution of diagnoses among the nearly 115,000 cases of lymphoid malignancy diagnosed in There are 5400 cases of acute lymphoid leukemia (ALL),

Distribution of diagnoses among the nearly 115,000 cases of lymphoid malignancy diagnosed in There are 5400 cases of acute lymphoid leukemia (ALL),

IX; formation of sphingolipids, sphingosine is synthesised from L-serine and palmitoyl-CoA. Source: Serine deficiency disorders, The Online Metabolic and.

Proposed model for the structure of ABC1 within the plasma membrane (modified from reference202 ). The two symmetric halves consisting of six membrane-spanning.

Illustration of the origin of tubular cysts

Bone x-ray film of GM1 gangliosidosis patients

Light micrographs comparing pycnodysostosis and normal bone

The lymphocyte markers that distinguish the various stages of B-cell differentiation are shown. Markers that are expressed on the cell surface are indicated.

Schematic representation of the DTDST protein

Radiographic appearance of intracranial meningioma in NF2

Crystal structure of human short/branched chain acyl-CoA dehydrogenase (PDB file 2JIF). A homotetramer with bound butyryl-Co as substrate is represented.

A section of the cerebellum stained with Sevier-Munger preparation from the brain of a 10-year-old SCA1 patient with 82 CAG repeats who died after 6 years.

Effect of chenodeoxycholic acid feeding on the bilirubin levels of a 10-year-old boy with 3β-hydroxy-Δ5-oxidoreductase/isomerase deficiency. (From Setchell.

Urinary excretion (mg/h) of tryptophan derivatives following administration of oral L-tryptophan (about 70 mg per kilogram body weight) administered to.

Neuropathology. Photomicrographs of the cerebellum

Free energy folding landscape for a hypothetical protein

Translocations predisposing to the occurrence of Down syndrome

Translocations predisposing to the occurrence of Down syndrome

Representation of Southern blot analysis revealing an expanding triplet repeat mutation in a myotonic dystrophy family. A grandmother and mother with the.

Progressive myopathy in a patient with type IIIa glycogen storage disease. The patient has a debrancher deficiency in both liver and muscle (subtype IIIa).

Model depicting the cycling of REP

Basal and peak serum thyrotropin (TSH) concentrations following intravenous administration of 500 μg thyrotropin-releasing factor (TRF) to subjects with.

Relation between the fractional catabolic rate (FCR) for plasma LDL and the number of LDL receptors on fibroblasts in patients with FH. The values for.

A comparison of acute insulin responses to 5 g i. v

Two children with LPI. The pictures were taken at the time of diagnosis. A, Child 12 years old. B, Child 6 years old. Note the prominent abdomen, hypotrophic.

Evolution of the ubiquitous α-, β-, and γ-crystallins and their structure. Details are described in the text. The α-crystallins are related to heat-shock.

Bilateral vestibular schwannoma

Anteroposterior radiographs of right tibia and fibula of case 2 at 2 years of age and left tibia and fibula of case 3 at age 6 years. Features of osteopetrosis.

Mechanism of NO synthesis

A comparison of normal cardiac anatomy (A) and the pathology of hypertrophic cardiomyopathy (B). Hypertrophic cardiomyopathy causes cardiomegaly (570 g;

MPS IH (Hurler syndrome) in a 4-year-old boy

Orofacial dyskinesia in a patient with Huntington's disease

OCTN2 mRNA in fibroblasts from normal controls and patients with primary carnitine deficiency. PolyA RNA isolated from fibroblasts of normal controls or.

Mechanism of NO synthesis

Insulin secretion rates during graded intravenous glucose infusions administered to 6 MODY-2 subjects with glucokinase (GCK) mutations and 6 control subjects.

Photosensitive skin lesions on the face of a child with C4 deficiency

Karyotype of glioblastoma

The renin-angiotensin-aldosterone system

Liver cell ultrastructure of girl M. S

Hydrolysis of membrane-associated ceramide by acid ceramidase in the presence of saposins and bis(monoacylglycero)phosphate (BMP) in the acidic lysosomal.

MRI contrast-enhancement and progression of X-ALD

Key structural elements of p53 DNA binding

Corneal opacity in a heterozygote observed by slit-lamp microscopy

FISH of glioblastoma. This interphase nucleus from a glioblastoma contains three chromosome 7 centromere signals (dark) and one centromere 10 signal (light).

Young female with OCA1B. The hair was white at birth

Overview of the TGF-β signaling pathway

Hepatic glucose production as a function of fasting plasma glucose levels. These studies involved the same individuals who were studied in Fig

Basic algorithm for cancer risk assessment that employs gene testing.

Schematic working model of the hepatic microsomal glucose-6-phosphatase system. ER = endoplasmic reticulum. This model is not meant to represent the actual.

Facial features of patients with molybdenum cofactor deficiency [patient 1, top left 4 ; patient 2, top right 117 ; and patient 3, bottom left 83 ] and.

Detection of XIST RNA in interphase cells from a normal male, a normal female, and a 49,XXXXX female by RNA fluorescence in situ hybridization. Male.

Structure and mutation spectrum of BRCA2

Composite megalosaccharide proposed for blood group substance

Complete chemical structures of the neutral glycosphingolipids that accumulate in Fabry disease. A, Globotriaosylceramide, the major accumulated substrate.

The PBDs can be caused by defects in peroxisomal matrix protein import or peroxisome membrane synthesis. Immunofluorescence microscopy shows that human.

Presentation transcript:

Infantile-onset GSDII Infantile-onset GSDII. A, An 8-month-old baby girl was diagnosed at 2 months of age because of floppiness, poor feeding, and delayed developmental milestones (note the head-lag and the frog-like posture of the legs). Upon clinical investigation, generalized muscle weakness, cardiac enlargement, and macroglossia were noted. The liver was palpable at 3 cm below the costal margin. The finding of complete acid α-glucosidase deficiency in cultured skin fibroblasts established the diagnosis. B, Chest roentgenogram of a 4-month-old female infant with generalized glycogen storage disease type II. The massive heart dominates the film. C, Electron micrograph of a portion of a hepatic parenchymal cell from a liver biopsy of a patient with acid α-glucosidase deficiency. Two vacuoles filled with glycogen are seen at magnification ×69,000. A membrane can be followed around most of the periphery of the vacuoles. (From Baudhuin P, Hers HG, Loeb H, Lab Invest 13:1139, 1964. Used with permission.) D, The muscle biopsy shows massive accumulation of glycogen in virtually all fibers (5 μM sections fixed with glutaraldehyde and stained with PAS). (Courtesy of Dr. Ans T. van der Ploeg and Dr. M. Christa B. Loonen, Sophia Children's Hospital, Rotterdam.) E, The heart of a patient at autopsy (age at death was 5 months). The heart is greatly enlarged, with thickened ventricles, due to extensive glycogen infiltration. There is some endocardial thickening. Source: Glycogen Storage Disease Type II: Acid α-Glucosidase (Acid Maltase) Deficiency, The Online Metabolic and Molecular Bases of Inherited Disease Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: https://ommbid.mhmedical.com/DownloadImage.aspx?image=/data/books/971/ch135fg1.png&sec=62642001&BookID=971&ChapterSecID=62641992&imagename= Accessed: October 17, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved